Variant report

Variant	rs2070765
Chromosome Location	chr11:64010085-64010086
allele	A/G
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	chr11:64007304-64013761	SK-N-SH	brain:	n/a	n/a
2	NR2F2	chr11:64007301-64010434	K562	blood:	n/a	n/a
3	POLR2A	chr11:64007879-64010324	A549	lung:	n/a	n/a
4	POLR2A	chr11:64007369-64012228	Hela-S3	cervix:	n/a	n/a
5	STAT5A	chr11:64007166-64010357	GM12878	blood:	n/a	chr11:64009328-64009340 chr11:64009807-64009819 chr11:64008269-64008281 chr11:64010167-64010179 chr11:64009562-64009574
6	POLR2A	chr11:64007368-64010160	GM19099	blood:	n/a	n/a
7	RUNX3	chr11:64009005-64010153	GM12878	blood:	n/a	n/a
8	BCL3	chr11:64007865-64012097	A549	lung:	n/a	chr11:64008413-64008422 chr11:64008867-64008880 chr11:64009302-64009311 chr11:64008425-64008438 chr11:64008875-64008884 chr11:64009641-64009654 chr11:64011791-64011799 chr11:64008863-64008876 chr11:64008351-64008360 chr11:64008974-64008983 chr11:64008868-64008877 chr11:64009165-64009174 chr11:64009330-64009343
9	POLR2A	chr11:64007601-64012043	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr11:64008097-64010179	K562	blood:	n/a	chr11:64008868-64008878 chr11:64008273-64008283
11	HCFC1	chr11:64007312-64010360	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:64007365-64010131	GM18526	blood:	n/a	n/a
13	POLR2A	chr11:64007059-64014115	SK-N-MC	brain:	n/a	n/a
14	IRF1	chr11:64009014-64010167	K562	blood:	n/a	chr11:64009597-64009611 chr11:64009051-64009065 chr11:64009541-64009550
15	POLR2A	chr11:64007814-64010225	IMR90	lung:	n/a	n/a
16	POLR2A	chr11:64007269-64010341	K562	blood:	n/a	n/a
17	POLR2A	chr11:64007265-64014108	U87	brain:	n/a	n/a
18	POLR2A	chr11:64007426-64010121	GM12878	blood:	n/a	n/a
19	MAX	chr11:64008008-64010241	A549	lung:	n/a	chr11:64008868-64008878 chr11:64008273-64008283
20	POLR2A	chr11:64007948-64010366	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr11:64007331-64010273	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:64010034-64010217	HepG2	liver:	n/a	n/a
23	YY1	chr11:64008876-64010223	GM12878	blood:	n/a	chr11:64009234-64009248 chr11:64009304-64009313 chr11:64008988-64008997 chr11:64009475-64009489 chr11:64009304-64009318
24	POLR2A	chr11:64007405-64010267	K562	blood:	n/a	n/a
25	EGR1	chr11:64009873-64010162	K562	blood:	n/a	n/a
26	POLR2A	chr11:64007402-64010313	Raji	blood:	n/a	n/a
27	HEY1	chr11:64007327-64010322	K562	blood:	n/a	chr11:64008612-64008627 chr11:64008863-64008878 chr11:64008438-64008453 chr11:64009305-64009320
28	ZNF143	chr11:64010048-64010121	K562	blood:	n/a	n/a
29	POLR2A	chr11:64007196-64010346	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:64008099-64010333	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr11:64007482-64010247	GM18951	blood:	n/a	n/a
32	POLR2A	chr11:64009315-64010326	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:64008957-64010260	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:64007143-64010293	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:64007314-64012027	K562	blood:	n/a	n/a
36	RELA	chr11:64007293-64010228	GM12891	blood:	n/a	n/a
37	HDAC2	chr11:64009764-64010185	K562	blood:	n/a	n/a
38	MYC	chr11:64007511-64010203	K562	blood:	n/a	chr11:64007976-64007985 chr11:64008868-64008878 chr11:64008273-64008283
39	POLR2A	chr11:64007302-64015527	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr11:64009842-64010248	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:64007699-64012057	HUVEC	blood vessel:	n/a	n/a
42	EGR1	chr11:64007852-64010178	K562	blood:	n/a	chr11:64009172-64009182 chr11:64008443-64008453 chr11:64008439-64008450 chr11:64008441-64008451 chr11:64009068-64009082 chr11:64009152-64009165 chr11:64008438-64008451 chr11:64008440-64008450 chr11:64008983-64008996 chr11:64008438-64008452 chr11:64009463-64009477 chr11:64008548-64008557 chr11:64008988-64008998 chr11:64008438-64008451 chr11:64009700-64009710 chr11:64008867-64008877 chr11:64008438-64008451 chr11:64009155-64009164 chr11:64008441-64008450 chr11:64008438-64008451 chr11:64008413-64008422 chr11:64008437-64008452 chr11:64008351-64008360
43	RUNX3	chr11:64009293-64010128	GM12878	blood:	n/a	n/a
44	ZBTB7A	chr11:64007619-64010174	K562	blood:	n/a	chr11:64009597-64009604
45	CTCF	chr11:64009980-64010130	WERI-Rb-1	eye:	n/a	n/a
46	POLR2A	chr11:64007111-64014311	GM12891	blood:	n/a	n/a
47	PBX3	chr11:64007880-64010285	SK-N-SH	brain:	n/a	n/a
48	MYC	chr11:64009789-64010217	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:64007232-64013948	K562	blood:	n/a	n/a
50	CREB1	chr11:64007823-64010197	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
2	chr11:64008452..64010897-chr17:56404287..56407137,2	K562	blood:
3	chr11:64010042..64012790-chr17:62777056..62779192,2	MCF-7	breast:
4	chr11:62607197..62609148-chr11:64007864..64010541,2	K562	blood:
5	chr11:64007008..64012234-chr11:64122125..64125548,6	K562	blood:
6	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
7	chr11:63932116..63935124-chr11:64007812..64010252,3	MCF-7	breast:
8	chr11:63933599..63935402-chr11:64009536..64011698,2	K562	blood:
9	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
10	chr11:64006794..64010904-chr11:64055205..64058214,4	MCF-7	breast:
11	chr11:64009563..64011727-chr3:73159090..73161572,2	K562	blood:
12	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
13	chr11:64007434..64010097-chr6:26123452..26125154,2	K562	blood:
14	chr11:63752092..63755018-chr11:64008321..64010556,3	K562	blood:
15	chr11:63930142..63931799-chr11:64009649..64012037,2	K562	blood:
16	chr11:64007566..64010545-chr11:64085469..64088420,4	MCF-7	breast:
17	chr11:63951070..63956024-chr11:64006485..64011246,10	MCF-7	breast:
18	chr11:64006660..64010446-chr11:64082567..64085290,3	K562	blood:
19	chr11:64008214..64010501-chr11:64051864..64054015,3	MCF-7	breast:
20	chr11:64008386..64010951-chr11:64125361..64127756,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256940	TF binding region
ENSG00000005379	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000215769	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000182450	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000265148	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000180596	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1058735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1059440	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11231701	0.86[EUR][1000 genomes]
rs11600867	0.82[YRI][hapmap]
rs11601024	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11601577	0.90[EUR][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];0.83[MKK][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs11603042	0.82[CHB][hapmap]
rs11603212	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs11605738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11606544	0.86[EUR][1000 genomes]
rs11607007	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11607144	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11607165	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12418035	0.90[MEX][hapmap];0.83[TSI][hapmap]
rs12574258	0.85[EUR][1000 genomes]
rs12575642	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12787852	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12794145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12797120	0.86[EUR][1000 genomes]
rs12798333	0.82[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.91[LWK][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802950	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2001003	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]
rs2015226	0.86[CEU][hapmap];0.93[CHB][hapmap];0.91[YRI][hapmap];0.86[EUR][1000 genomes]
rs2282490	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2286614	1.00[ASW][hapmap]
rs2875749	0.86[EUR][1000 genomes]
rs34089806	0.83[EUR][1000 genomes]
rs34113693	0.86[EUR][1000 genomes]
rs34358026	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35090903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35095324	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35458188	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35524387	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35858916	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3741404	0.82[CHB][hapmap]
rs3802933	0.93[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][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];0.84[EUR][1000 genomes]
rs58632573	0.86[EUR][1000 genomes]
rs604203	0.87[CHB][hapmap]
rs6591837	0.92[EUR][1000 genomes]
rs66648159	0.86[EUR][1000 genomes]
rs67546972	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7102327	0.86[CEU][hapmap];0.93[CHB][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs7111278	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7112277	0.93[EUR][1000 genomes]
rs7130030	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71479474	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72918475	0.82[EUR][1000 genomes]
rs72920332	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72922039	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7478730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7939784	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.86[EUR][1000 genomes]
rs7944061	0.86[EUR][1000 genomes]
rs7952318	0.82[EUR][1000 genomes]
rs882146	1.00[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 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	nsv541061	chr11:63970174-64010995	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	nsv541062	chr11:63998625-64015834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
38	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
39	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
40	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
41	esv18564	chr11:64001265-64018114	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
42	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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2070765	PRDX5	cis	parietal	SCAN
rs2070765	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL
rs2070765	TRPT1	cis	Muscle Skeletal	GTEx
rs2070765	CDK2AP2	cis	parietal	SCAN
rs2070765	FKBP2	cis	parietal	SCAN
rs2070765	FAM89B	cis	parietal	SCAN
rs2070765	PPP1R14B	cis	multi-tissue	Pritchard
rs2070765	PPP1R14B	cis	Heart Left Ventricle	GTEx
rs2070765	FAU	cis	parietal	SCAN
rs2070765	FLRT1	cis	cerebellum	SCAN
rs2070765	ASRGL1	cis	parietal	SCAN
rs2070765	CD248	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64007600-64010400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:64007800-64010200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64007800-64010400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:64007800-64010400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:64008000-64010200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:64008000-64010200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:64008000-64010400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:64008200-64010200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:64008200-64010200	Active TSS	Brain Substantia Nigra	brain
10	chr11:64008200-64010400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:64008200-64011000	Active TSS	HSMMtube	muscle
12	chr11:64008400-64010400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:64009200-64010200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:64009200-64010200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:64009200-64010400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:64009200-64010400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:64009200-64010400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:64009200-64010600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:64009400-64010200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr11:64009400-64010200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:64009400-64010200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr11:64009400-64010200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:64009400-64010200	Flanking Active TSS	Placenta	Placenta
24	chr11:64009400-64010400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:64009400-64010400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:64009400-64010400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:64009400-64010400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:64009400-64010800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr11:64009400-64013200	Enhancers	Fetal Brain Male	brain
30	chr11:64009600-64010200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:64009600-64010200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:64009600-64010200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr11:64009600-64010200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:64009600-64010200	Flanking Active TSS	Liver	Liver
35	chr11:64009600-64010200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:64009600-64010200	Flanking Active TSS	Colonic Mucosa	Colon
37	chr11:64009600-64010200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:64009600-64010200	Flanking Active TSS	Fetal Lung	lung
39	chr11:64009600-64010200	Flanking Active TSS	Thymus	Thymus
40	chr11:64009600-64010400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:64009600-64010400	Flanking Active TSS	Fetal Brain Female	brain
42	chr11:64009600-64010400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr11:64009600-64010400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr11:64009600-64010400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:64009600-64010400	Flanking Active TSS	HMEC	breast
46	chr11:64009600-64010800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr11:64009600-64010800	Flanking Active TSS	Hela-S3	cervix
48	chr11:64009800-64010200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:64009800-64010200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:64009800-64010200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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