Variant report

Variant	rs1531514
Chromosome Location	chr11:67398862-67398863
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67393312-67402949	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:67398770-67399380	K562	blood:	n/a	n/a
3	ATF2	chr11:67397854-67398940	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:67397984-67398868	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:67395514-67400247	HepG2	liver:	n/a	n/a
6	NR2F2	chr11:67397786-67400792	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:67397748-67401958	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:67394290-67400134	K562	blood:	n/a	n/a
9	POLR2A	chr11:67393522-67399530	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:67397726-67401067	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMC3	chr11:67396615-67398964	SK-N-SH	brain:	n/a	chr11:67396876-67396890 chr11:67397848-67397858 chr11:67396880-67396890
12	POLR2A	chr11:67397789-67401094	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67398826-67398876	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:67398826-67398876	BE2_C	brain:	n/a
3	chr11:67398826-67398876	K562	blood:	n/a
4	chr11:67398826-67398876	AG04450	lung:	fetal
5	chr11:67398826-67398876	H1-hESC	embryonic stem cell:	embryo
6	chr11:67398826-67398876	T-47D	breast:	n/a
7	chr11:67398826-67398876	HCPEpiC	choroid plexus:	n/a
8	chr11:67398826-67398876	NB4	blood:	n/a
9	chr11:67398826-67398876	MCF10A-Er-Src	breast:	n/a
10	chr11:67398826-67398876	HepG2	liver:	n/a
11	chr11:67398826-67398876	NHDF-neo	bronchial:	n/a
12	chr11:67398826-67398876	BJ	skin:	n/a
13	chr11:67398826-67398876	GM12878	blood:	n/a
14	chr11:67398826-67398876	HMEC	breast:	n/a
15	chr11:67398826-67398876	SK-N-MC	brain:	n/a
16	chr11:67398826-67398876	SKMC	muscle:	n/a
17	chr11:67398826-67398876	ovcar-3	ovarian:	n/a
18	chr11:67398826-67398876	HEK293	kidney:	embryo
19	chr11:67398826-67398876	AG10803	skin:	n/a
20	chr11:67398826-67398876	Hepatocyte	liver:	n/a
21	chr11:67398826-67398876	Hela-S3	cervix:	n/a
22	chr11:67398826-67398876	ProgFib	skin:	n/a
23	chr11:67398826-67398876	NT2-D1	testis:	n/a
24	chr11:67398826-67398876	SK-N-SH_RA	brain:	n/a
25	chr11:67398826-67398876	GM19239	blood:	n/a
26	chr11:67398826-67398876	PrEC	prostate:	n/a
27	chr11:67398826-67398876	HRPEpiC	eye:	n/a
28	chr11:67398826-67398876	AoSMC	blood vessel:	n/a
29	chr11:67398826-67398876	MCF-7	breast:	n/a
30	chr11:67398826-67398876	SAEC	small airway:	n/a
31	chr11:67398826-67398876	HUVEC	blood vessel:	n/a
32	chr11:67398826-67398876	HRCEpiC	kidney:	n/a
33	chr11:67398826-67398876	HRE	kidney:	n/a
34	chr11:67398826-67398876	HCT-116	colon:	n/a
35	chr11:67398826-67398876	U87	brain:	n/a
36	chr11:67398826-67398876	Jurkat	blood:	n/a
37	chr11:67398826-67398876	PFSK-1	brain:	n/a
38	chr11:67398826-67398876	NH-A	brain:	n/a
39	chr11:67398826-67398876	HL-60	blood:	n/a
40	chr11:67398826-67398876	ECC-1	luminal epithelium:	n/a
41	chr11:67398826-67398876	GM12891	blood:	n/a
42	chr11:67398826-67398876	HEEpiC	esophagus:	n/a
43	chr11:67398826-67398876	HCF	heart:	n/a
44	chr11:67398826-67398876	AG09319	gingival:	n/a
45	chr11:67398826-67398876	IMR90	lung:	fetal
46	chr11:67398826-67398876	GM12892	blood:	n/a
47	chr11:67398826-67398876	PANC-1	pancreas:	n/a
48	chr11:67398826-67398876	Caco-2	colon:	n/a
49	chr11:67398826-67398876	A549	lung:	n/a
50	chr11:67398826-67398876	HNPCEpiC	eye:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67397976..67400551-chr11:67412070..67415515,3	MCF-7	breast:
2	chr11:67396956..67399904-chr11:67782060..67783739,2	K562	blood:
3	chr11:67395494..67399201-chr11:67413492..67416311,3	K562	blood:
4	chr11:67140815..67142437-chr11:67396749..67399508,2	MCF-7	breast:
5	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:
6	chr11:67397857..67399603-chr17:19654494..19656370,2	MCF-7	breast:
7	chr11:67397074..67400069-chr11:67440700..67443508,2	K562	blood:
8	chr11:67248902..67250580-chr11:67397278..67399388,2	K562	blood:
9	chr11:67380957..67389846-chr11:67394173..67403228,21	K562	blood:
10	chr11:67353101..67355692-chr11:67397411..67399664,2	K562	blood:
11	chr11:67396543..67400484-chr11:67414425..67419634,5	MCF-7	breast:
12	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
13	chr11:67397074..67400069-chr11:67440700..67443508,3	K562	blood:
14	chr11:67397077..67399431-chr11:67436542..67439337,2	K562	blood:
15	chr11:67371375..67376389-chr11:67395488..67399117,10	K562	blood:
16	chr10:14920177..14922925-chr11:67396775..67398999,2	MCF-7	breast:
17	chr11:67395852..67400432-chr11:67404620..67408941,6	K562	blood:
18	chr11:67323486..67326096-chr11:67397731..67399515,2	K562	blood:
19	chr11:67377022..67387637-chr11:67394926..67400114,17	MCF-7	breast:
20	chr11:67397789..67400149-chr11:67805854..67808193,2	MCF-7	breast:
21	chr11:67348847..67353254-chr11:67396059..67399206,10	K562	blood:
22	chr11:67370584..67375680-chr11:67395595..67400853,11	MCF-7	breast:
23	chr11:67398077..67399002-chr17:19665643..19666146,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255318	TF binding region
NUDT8	TF binding region
NUDT8	CpG island
ENSG00000255318	CpG island
ENSG00000132744	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000152455	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000110719	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000167800	Chromatin interaction
ENSG00000132746	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000272853	Chromatin interaction
ENSG00000006534	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10791908	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896185	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896186	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896190	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11227862	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11227866	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11603991	0.86[CEU][hapmap]
rs12421329	0.88[CEU][hapmap]
rs12790798	0.88[CEU][hapmap]
rs12793832	0.88[CEU][hapmap]
rs1695	0.81[CEU][hapmap]
rs1871042	0.81[CEU][hapmap]
rs1871043	0.86[CEU][hapmap]
rs2126717	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2126718	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2126719	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2187002	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2447595	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2447596	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2509709	0.85[EUR][1000 genomes]
rs2514017	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2514022	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs3765088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4024254	0.88[CEU][hapmap]
rs4147581	0.89[CHB][hapmap]
rs4148959	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4148960	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4930210	0.96[CEU][hapmap];0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs56092845	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs596603	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs611663	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs614080	0.88[CHB][hapmap]
rs61894496	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625978	0.84[CHB][hapmap]
rs640777	0.86[EUR][1000 genomes]
rs656652	0.84[CHB][hapmap]
rs7103632	0.86[CEU][hapmap]
rs7130679	0.91[EUR][1000 genomes]
rs749174	0.81[CEU][hapmap]
rs7948073	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs947895	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
4	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
6	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
7	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
13	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers 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	139 gene(s)	inside rSNPs	diseases
14	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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 target site	47 gene(s)	inside rSNPs	diseases
16	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
17	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription 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 target site	69 gene(s)	inside rSNPs	diseases
18	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
20	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
21	nsv1041887	chr11:67357365-67464893	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
22	nsv541080	chr11:67357365-67464893	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
23	nsv529452	chr11:67358204-67465721	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking 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	49 gene(s)	inside rSNPs	diseases
24	nsv492253	chr11:67358204-67574402	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
25	nsv1043487	chr11:67360899-67662476	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
26	nsv897817	chr11:67372477-67414492	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
27	nsv897818	chr11:67372477-67419855	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
28	nsv468607	chr11:67372477-67423892	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
29	nsv555270	chr11:67372477-67423892	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
30	nsv897819	chr11:67372477-67426797	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
31	nsv468608	chr11:67372477-67433869	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
32	nsv555271	chr11:67372477-67433869	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
33	nsv897820	chr11:67372477-67460529	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
34	nsv897821	chr11:67378594-67430762	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
35	nsv897822	chr11:67378594-67441553	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
36	nsv897823	chr11:67378594-67460529	Enhancers Bivalent Enhancer Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
37	nsv897824	chr11:67379575-67418202	Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
38	nsv897825	chr11:67381110-67460529	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
39	nsv555272	chr11:67394895-67408241	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
40	nsv468609	chr11:67395714-67433869	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
41	nsv555273	chr11:67395714-67433869	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
42	nsv469963	chr11:67395714-67438195	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
43	esv3390228	chr11:67396401-67399249	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
44	esv3352142	chr11:67396776-67398924	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1531514	NUDT8	cis	Heart Left Ventricle	GTEx
rs1531514	DOC2GP	cis	Artery Tibial	GTEx
rs1531514	RPS6KB2	cis	multi-tissue	Pritchard
rs1531514	DOC2GP	cis	Esophagus Muscularis	GTEx
rs1531514	RPS6KB2	cis	Lymphoblastoid	GTEx
rs1531514	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs1531514	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs1531514	NUDT8	cis	Artery Tibial	GTEx
rs1531514	RP11-655M14.13	cis	Esophagus Muscularis	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67398000-67399000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr11:67398000-67399000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:67398000-67399000	Flanking Active TSS	Colonic Mucosa	Colon
4	chr11:67398000-67399000	Flanking Active TSS	Dnd41	blood
5	chr11:67398200-67399000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr11:67398200-67399000	Flanking Active TSS	Hela-S3	cervix
7	chr11:67398200-67399000	Flanking Active TSS	K562	blood
8	chr11:67398200-67400800	Flanking Active TSS	HepG2	liver
9	chr11:67398400-67399000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:67398400-67399000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:67398400-67399000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:67398400-67399000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:67398400-67399600	Enhancers	Spleen	Spleen
14	chr11:67398600-67399000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:67398600-67399000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:67398600-67399000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:67398600-67399000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:67398600-67399000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:67398600-67399000	Enhancers	Brain Anterior Caudate	brain
20	chr11:67398600-67399000	Enhancers	Fetal Muscle Leg	muscle
21	chr11:67398600-67399000	Enhancers	Fetal Thymus	thymus
22	chr11:67398600-67399200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:67398600-67399200	Enhancers	Primary B cells from cord blood	blood
24	chr11:67398600-67399200	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:67398600-67399200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:67398600-67399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:67398600-67399200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:67398600-67399200	Enhancers	Brain Germinal Matrix	brain
29	chr11:67398600-67399200	Enhancers	Esophagus	oesophagus
30	chr11:67398600-67399200	Enhancers	Fetal Brain Male	brain
31	chr11:67398600-67399400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:67398600-67399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:67398600-67400000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:67398600-67400000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:67398600-67400800	Enhancers	Right Ventricle	heart
36	chr11:67398600-67401000	Enhancers	Pancreas	Pancrea
37	chr11:67398600-67401400	Enhancers	Liver	Liver
38	chr11:67398600-67401800	Enhancers	Gastric	stomach
39	chr11:67398600-67402000	Enhancers	Stomach Mucosa	stomach
40	chr11:67398600-67403200	Enhancers	Fetal Intestine Large	intestine
41	chr11:67398600-67403200	Enhancers	Fetal Intestine Small	intestine
42	chr11:67398800-67399000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:67398800-67399000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr11:67398800-67399000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:67398800-67399000	Enhancers	Adipose Nuclei	Adipose
46	chr11:67398800-67399000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:67398800-67399000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr11:67398800-67399000	Active TSS	Fetal Brain Female	brain
49	chr11:67398800-67399000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:67398800-67399000	Enhancers	NHDF-Ad	bronchial

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