Variant report

Variant	rs2001003
Chromosome Location	chr11:64018687-64018688
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64018613-64018931	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:64018580-64018730	GM12865	blood:	n/a	n/a
3	POLR2A	chr11:64018671-64019311	K562	blood:	n/a	n/a
4	ZBTB7A	chr11:64018484-64019027	HepG2	liver:	n/a	chr11:64018725-64018734
5	SP1	chr11:64018590-64019015	H1-hESC	embryonic stem cell:	n/a	chr11:64018927-64018936 chr11:64018926-64018938 chr11:64018923-64018937 chr11:64018926-64018938 chr11:64018641-64018654 chr11:64018928-64018937 chr11:64018920-64018932 chr11:64018927-64018937 chr11:64018927-64018937 chr11:64018928-64018937
6	CTCF	chr11:64018542-64019022	GM19240	blood:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
7	CTCF	chr11:64018458-64019125	K562	blood:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
8	TBL1XR1	chr11:64018434-64018692	K562	blood:	n/a	n/a
9	CTCF	chr11:64018540-64018690	HCM	heart:	n/a	n/a
10	CTCF	chr11:64017936-64020129	SK-N-SH	brain:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64019771-64019789 chr11:64019772-64019788 chr11:64019892-64019901 chr11:64018897-64018915 chr11:64018900-64018909 chr11:64019777-64019786 chr11:64018208-64018216
11	POLR2A	chr11:64018389-64019291	K562	blood:	n/a	n/a
12	CTCF	chr11:64018538-64018998	NHEK	skin:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
13	CREB1	chr11:64018572-64019192	A549	lung:	n/a	n/a
14	PBX3	chr11:64018670-64019095	A549	lung:	n/a	n/a
15	RAD21	chr11:64018643-64019032	SK-N-SH_RA	brain:	n/a	chr11:64018898-64018917
16	CTCF	chr11:64018600-64018750	HepG2	liver:	n/a	n/a
17	BCL3	chr11:64018442-64018876	A549	lung:	n/a	chr11:64018826-64018839
18	CTCF	chr11:64018580-64018730	GM12872	blood:	n/a	n/a
19	ELF1	chr11:64018381-64018702	K562	blood:	n/a	chr11:64018559-64018571
20	TBP	chr11:64018400-64019160	K562	blood:	n/a	n/a
21	POLR2A	chr11:64018588-64019551	PFSK-1	brain:	n/a	n/a
22	CTCF	chr11:64018540-64018690	GM12873	blood:	n/a	n/a
23	CTCF	chr11:64018620-64018770	GM12864	blood:	n/a	n/a
24	CTCF	chr11:64018573-64019007	MCF-7	breast:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
25	MAX	chr11:64018296-64019198	K562	blood:	n/a	chr11:64018921-64018931 chr11:64018511-64018521 chr11:64018925-64018935
26	CTCF	chr11:64018568-64019013	GM10248	blood:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
27	MAX	chr11:64018441-64019085	H1-hESC	embryonic stem cell:	n/a	chr11:64018921-64018931 chr11:64018511-64018521 chr11:64018925-64018935
28	POLR2A	chr11:64018369-64018784	H1-neurons	neurons:	n/a	n/a
29	SP4	chr11:64018544-64019122	H1-hESC	embryonic stem cell:	n/a	chr11:64018922-64018938 chr11:64018924-64018940 chr11:64018560-64018576
30	HDAC2	chr11:64018684-64018985	K562	blood:	n/a	n/a
31	CTCF	chr11:64018541-64019012	GM13977	blood:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
32	MYC	chr11:64018442-64019282	K562	blood:	n/a	chr11:64018921-64018931 chr11:64018511-64018521 chr11:64018925-64018935
33	POLR2A	chr11:64018656-64019324	PANC-1	pancreas:	n/a	n/a
34	ZBTB7A	chr11:64017941-64020437	ECC-1	luminal epithelium:	n/a	chr11:64018087-64018095 chr11:64020161-64020169 chr11:64018725-64018734 chr11:64018067-64018081
35	CTCF	chr11:64018580-64018730	HepG2	liver:	n/a	n/a
36	CTCF	chr11:64018177-64020203	A549	lung:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64019771-64019789 chr11:64019772-64019788 chr11:64019892-64019901 chr11:64018897-64018915 chr11:64018900-64018909 chr11:64020165-64020178 chr11:64019777-64019786 chr11:64018208-64018216
37	CTCF	chr11:64018501-64019028	K562	blood:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
38	POLR2A	chr11:64018605-64020172	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:64018640-64018790	HFF	foreskin:	n/a	n/a
40	CTCF	chr11:64018547-64018973	A549	lung:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
41	POLR2A	chr11:64018618-64019310	A549	lung:	n/a	n/a
42	CTCF	chr11:64018585-64018766	SK-N-SH_RA	brain:	n/a	n/a
43	POLR2A	chr11:64018107-64018890	U87	brain:	n/a	n/a
44	TAF7	chr11:64018579-64019226	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr11:64018663-64019237	K562	blood:	n/a	n/a
46	MAX	chr11:64018017-64019071	H1-hESC	embryonic stem cell:	n/a	chr11:64018921-64018931 chr11:64018511-64018521 chr11:64018925-64018935
47	HCFC1	chr11:64018018-64021492	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:64018507-64019073	Spleen_OC	spleen:	n/a	chr11:64018898-64018914 chr11:64018900-64018913 chr11:64018897-64018915 chr11:64018900-64018909
49	HCFC1	chr11:64018557-64018939	K562	blood:	n/a	n/a
50	CTCF	chr11:64018640-64018790	HCM	heart:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64018643-64018693	ECC-1	luminal epithelium:	n/a
2	chr11:64018687-64018737	PANC-1	pancreas:	n/a
3	chr11:64018687-64018737	GM12891	blood:	n/a
4	chr11:64018687-64018737	SK-N-SH_RA	brain:	n/a
5	chr11:64018643-64018693	AG04450	lung:	fetal
6	chr11:64018643-64018693	HIPEpiC	eye:	n/a
7	chr11:64018643-64018693	K562	blood:	n/a
8	chr11:64018643-64018693	LNCaP	prostate:	n/a
9	chr11:64018687-64018737	Hepatocyte	liver:	n/a
10	chr11:64018687-64018737	HCT-116	colon:	n/a
11	chr11:64018643-64018693	NH-A	brain:	n/a
12	chr11:64018643-64018693	SK-N-MC	brain:	n/a
13	chr11:64018643-64018693	AG09309	skin:	n/a
14	chr11:64018687-64018737	HL-60	blood:	n/a
15	chr11:64018687-64018737	HNPCEpiC	eye:	n/a
16	chr11:64018643-64018693	HEEpiC	esophagus:	n/a
17	chr11:64018643-64018693	NB4	blood:	n/a
18	chr11:64018687-64018737	ProgFib	skin:	n/a
19	chr11:64018643-64018693	H1-hESC	embryonic stem cell:	embryo
20	chr11:64018643-64018693	AG09319	gingival:	n/a
21	chr11:64018687-64018737	HCM	heart:	n/a
22	chr11:64018643-64018693	GM06990	blood:	n/a
23	chr11:64018643-64018693	HCT-116	colon:	n/a
24	chr11:64018687-64018737	HAEpiC	amniotic membrane:	n/a
25	chr11:64018643-64018693	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:64018687-64018737	SK-N-MC	brain:	n/a
27	chr11:64018687-64018737	PFSK-1	brain:	n/a
28	chr11:64018687-64018737	NHDF-neo	bronchial:	n/a
29	chr11:64018643-64018693	HCM	heart:	n/a
30	chr11:64018687-64018737	NHBE	bronchial:	n/a
31	chr11:64018687-64018737	AG04450	lung:	fetal
32	chr11:64018643-64018693	SK-N-SH_RA	brain:	n/a
33	chr11:64018643-64018693	Jurkat	blood:	n/a
34	chr11:64018687-64018737	HCPEpiC	choroid plexus:	n/a
35	chr11:64018643-64018693	HUVEC	blood vessel:	n/a
36	chr11:64018687-64018737	MCF-7	breast:	n/a
37	chr11:64018643-64018693	AG04449	skin:	fetal
38	chr11:64018687-64018737	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:64018687-64018737	HMEC	breast:	n/a
40	chr11:64018643-64018693	SKMC	muscle:	n/a
41	chr11:64018687-64018737	HCF	heart:	n/a
42	chr11:64018687-64018737	CMK	blood:	n/a
43	chr11:64018643-64018693	HRCEpiC	kidney:	n/a
44	chr11:64018687-64018737	AG10803	skin:	n/a
45	chr11:64018687-64018737	AG09319	gingival:	n/a
46	chr11:64018687-64018737	HRPEpiC	eye:	n/a
47	chr11:64018687-64018737	ECC-1	luminal epithelium:	n/a
48	chr11:64018687-64018737	Jurkat	blood:	n/a
49	chr11:64018687-64018737	RPTEC	kidney:	n/a
50	chr11:64018643-64018693	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64015797..64019000-chr11:64055834..64058652,3	MCF-7	breast:
2	chr11:64017685..64020898-chr11:64124130..64127721,3	MCF-7	breast:
3	chr11:64017311..64024506-chr11:64050135..64055747,10	MCF-7	breast:
4	chr11:64016812..64021458-chr11:64049548..64056058,8	MCF-7	breast:
5	chr11:64016230..64019029-chr11:64083442..64086463,3	MCF-7	breast:
6	chr11:63951620..63954482-chr11:64017344..64021444,4	MCF-7	breast:
7	chr11:64017295..64020181-chr11:64543928..64546600,2	MCF-7	breast:
8	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
9	chr11:63930758..63935103-chr11:64018023..64022943,7	MCF-7	breast:
10	chr11:64017360..64020043-chr11:64060077..64062122,2	MCF-7	breast:
11	chr11:64018454..64020454-chr11:65189395..65191669,2	MCF-7	breast:
12	chr11:64008764..64009517-chr11:64018501..64019367,2	K562	blood:
13	chr11:64018491..64018992-chr20:30326186..30326686,2	Hela-S3	cervix:
14	chr11:64018519..64019489-chr7:7679437..7680045,2	Hela-S3	cervix:
15	chr11:62367818..62370152-chr11:64017422..64019610,2	MCF-7	breast:
16	chr11:64008735..64009640-chr11:64018061..64018903,2	MCF-7	breast:
17	chr11:63971752..63972612-chr11:64018302..64018977,2	MCF-7	breast:
18	chr11:64012813..64019826-chr11:64070484..64074683,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257086	TF binding region
PPP1R14B	TF binding region
PLCB3	TF binding region
PPP1R14B	CpG island
ENSG00000257086	CpG island
PLCB3	CpG island
ENSG00000149480	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000182450	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000173153	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1058735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1059440	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11600867	0.82[YRI][hapmap]
rs11601024	0.87[AFR][1000 genomes]
rs11602181	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap]
rs11603042	0.82[CHB][hapmap]
rs11603212	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap]
rs11605738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11607007	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607144	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11607165	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12418035	0.90[MEX][hapmap];0.83[TSI][hapmap]
rs12575642	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap]
rs12787852	0.82[AFR][1000 genomes]
rs12794145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12798333	0.82[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12802950	0.81[AMR][1000 genomes]
rs2015226	0.86[CEU][hapmap];0.93[CHB][hapmap];0.82[YRI][hapmap]
rs2070765	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282490	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2286614	1.00[ASW][hapmap]
rs28395875	0.82[EUR][1000 genomes]
rs34358026	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35090903	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35458188	0.87[AFR][1000 genomes]
rs35524387	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35858916	0.87[AFR][1000 genomes]
rs3741404	0.82[CHB][hapmap]
rs3802933	0.93[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs3824854	0.86[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs604203	0.87[CHB][hapmap]
rs67546972	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7102327	0.86[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap]
rs7111278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71479474	0.84[AFR][1000 genomes]
rs72920332	0.87[AFR][1000 genomes]
rs72922039	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7478730	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938380	0.82[EUR][1000 genomes]
rs7939107	0.80[EUR][1000 genomes]
rs7939784	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap]
rs882146	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
11	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
12	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
13	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
14	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
15	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
16	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
17	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
19	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
20	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
21	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
22	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
23	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
25	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
26	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
27	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
28	nsv897673	chr11:63991581-64018687	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
29	nsv897675	chr11:63994692-64018687	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
30	nsv897676	chr11:63994692-64022459	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
31	nsv897677	chr11:63994692-64023971	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
32	nsv897678	chr11:63994692-64026144	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
33	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
34	nsv897680	chr11:63997338-64022459	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
35	nsv897681	chr11:63998240-64022459	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
36	nsv541063	chr11:63998625-64020906	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
37	nsv541064	chr11:63998625-64036450	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
38	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
39	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2001003	TRPT1	cis	Muscle Skeletal	GTEx
rs2001003	PPP1R14B	cis	Heart Left Ventricle	GTEx
rs2001003	FAU	cis	parietal	SCAN
rs2001003	ASRGL1	cis	parietal	SCAN
rs2001003	FAM89B	cis	parietal	SCAN
rs2001003	FKBP2	cis	lymphoblastoid	seeQTL
rs2001003	CD248	cis	parietal	SCAN
rs2001003	FKBP2	cis	parietal	SCAN
rs2001003	PRDX5	cis	parietal	SCAN
rs2001003	FLRT1	cis	cerebellum	SCAN
rs2001003	PPP1R14B	cis	multi-tissue	Pritchard
rs2001003	CDK2AP2	cis	parietal	SCAN
rs2001003	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64017800-64018800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:64017800-64018800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:64017800-64020800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:64018000-64018800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:64018000-64018800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:64018000-64018800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr11:64018000-64018800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:64018000-64018800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:64018000-64018800	Enhancers	Fetal Heart	heart
10	chr11:64018000-64018800	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr11:64018200-64018800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:64018200-64018800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:64018200-64018800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:64018200-64018800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:64018200-64018800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:64018200-64018800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:64018200-64018800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:64018200-64018800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:64018200-64018800	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:64018200-64018800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:64018200-64018800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:64018200-64018800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:64018200-64018800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr11:64018200-64018800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:64018200-64018800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:64018200-64018800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:64018200-64018800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:64018200-64018800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:64018200-64018800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:64018200-64018800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:64018200-64018800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:64018200-64018800	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr11:64018200-64018800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr11:64018200-64018800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr11:64018200-64018800	Flanking Active TSS	Fetal Thymus	thymus
36	chr11:64018200-64018800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:64018200-64018800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:64018200-64018800	Flanking Active TSS	Right Ventricle	heart
39	chr11:64018200-64018800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr11:64018200-64018800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:64018200-64018800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr11:64018200-64018800	Flanking Active TSS	Dnd41	blood
43	chr11:64018200-64019000	Enhancers	Spleen	Spleen
44	chr11:64018200-64019200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr11:64018200-64019400	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:64018200-64019600	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:64018200-64020000	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:64018200-64020000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:64018200-64020000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr11:64018200-64020000	Active TSS	Fetal Brain Female	brain

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