Variant report

Variant	rs4148959
Chromosome Location	chr11:67381110-67381111
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	chr11:67380861-67381212	U87	brain:	n/a	n/a
2	POLR2A	chr11:67380724-67382183	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:67378359-67383489	K562	blood:	n/a	n/a
4	POLR2A	chr11:67379915-67382363	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:67380084-67383515	GM12892	blood:	n/a	n/a
6	PML	chr11:67381052-67382365	GM12878	blood:	n/a	n/a
7	STAT5A	chr11:67380956-67382657	GM12878	blood:	n/a	chr11:67381542-67381550
8	POLR2A	chr11:67377725-67383572	K562	blood:	n/a	n/a
9	BRCA1	chr11:67381065-67381357	GM12878	blood:	n/a	n/a
10	POU2F2	chr11:67381106-67382372	GM12878	blood:	n/a	chr11:67382176-67382188
11	POLR2A	chr11:67380792-67382215	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:67380193-67382440	HL-60	blood:	n/a	n/a
13	POLR2A	chr11:67379914-67382533	K562	blood:	n/a	n/a
14	POLR2A	chr11:67380817-67381164	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:67381076-67382343	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:67379657-67382152	K562	blood:	n/a	n/a
17	POLR2A	chr11:67380048-67383221	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:67380192-67383449	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:67380803-67383110	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:67380821-67382271	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:67381053-67382365	Hela-S3	cervix:	n/a	n/a
22	NFATC1	chr11:67381109-67382078	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:67380989-67382800	H1-hESC	embryonic stem cell:	n/a	n/a
24	ELF1	chr11:67381064-67383225	GM12878	blood:	n/a	chr11:67381636-67381649 chr11:67381638-67381649 chr11:67381638-67381649
25	FOXM1	chr11:67381043-67382005	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:67380801-67381419	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:67380415-67383596	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:67380978-67382524	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr11:67378104-67382420	K562	blood:	n/a	n/a
30	EP300	chr11:67381097-67382121	GM12878	blood:	n/a	chr11:67382005-67382018 chr11:67381567-67381583
31	POLR2A	chr11:67380871-67381121	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:67380737-67382346	PANC-1	pancreas:	n/a	n/a
33	CTCF	chr11:67380980-67381130	GM12864	blood:	n/a	n/a
34	POLR2A	chr11:67381103-67382243	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:67380971-67382355	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:67381046-67382070	ECC-1	luminal epithelium:	n/a	n/a
37	MTA3	chr11:67380640-67383028	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:67380811-67383070	GM12892	blood:	n/a	n/a
39	POLR2A	chr11:67380853-67381188	H1-neurons	neurons:	n/a	n/a
40	EBF1	chr11:67381038-67382286	GM12878	blood:	n/a	chr11:67381476-67381486 chr11:67382150-67382159 chr11:67381476-67381485 chr11:67381476-67381485 chr11:67382148-67382161 chr11:67381475-67381486 chr11:67381474-67381487
41	SPI1	chr11:67381080-67382269	GM12878	blood:	n/a	chr11:67381637-67381650 chr11:67381636-67381649
42	POLR2A	chr11:67381087-67381483	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67140249..67142626-chr11:67380875..67383552,2	MCF-7	breast:
2	chr11:67380317..67383233-chr11:67433739..67435714,2	MCF-7	breast:
3	chr11:67349088..67352896-chr11:67377453..67387652,15	K562	blood:
4	chr11:67377022..67387637-chr11:67394926..67400114,17	MCF-7	breast:
5	chr11:67380957..67389846-chr11:67394173..67403228,21	K562	blood:
6	chr11:67378665..67384491-chr11:67395408..67398335,5	MCF-7	breast:
7	chr11:67348020..67353194-chr11:67379787..67385803,14	K562	blood:
8	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:
9	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:

Variant related genes	Relation type
DOC2GP	TF binding region
ENSG00000132746	Chromatin interaction
ENSG00000230607	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000255318	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10791908	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896185	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10896186	0.88[CEU][hapmap];0.90[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10896190	0.91[EUR][1000 genomes]
rs11227845	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11227862	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227866	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11603991	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12416994	0.91[ASN][1000 genomes]
rs12421329	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12790798	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12792496	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12793832	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12798262	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1531514	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1695	0.84[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap]
rs1871042	0.84[CEU][hapmap]
rs1871043	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2126717	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2126718	0.93[EUR][1000 genomes]
rs2126719	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2187002	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370141	0.91[CHB][hapmap]
rs2447595	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2447596	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2509709	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2514017	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2514022	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3765088	0.88[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs4024254	0.81[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148960	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244823	0.87[ASN][1000 genomes]
rs4360710	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4891	0.83[CEU][hapmap];0.92[CHB][hapmap]
rs4930210	0.84[CEU][hapmap];0.83[GIH][hapmap];0.93[TSI][hapmap]
rs4930450	0.93[ASN][1000 genomes]
rs56092845	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs596603	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs61894496	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs640777	0.83[EUR][1000 genomes]
rs6591245	0.92[CHB][hapmap]
rs6591259	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7103632	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7106675	0.88[CHB][hapmap]
rs7108038	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7108149	0.86[ASN][1000 genomes]
rs7130679	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs749174	0.84[CEU][hapmap]
rs762803	0.81[CHB][hapmap]
rs7937159	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7939505	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7948073	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950707	0.83[ASN][1000 genomes]
rs7952081	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs947895	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:38 , 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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4148959	RPS6KB2	cis	lymphoblastoid	seeQTL
rs4148959	DOC2GP	cis	Artery Tibial	GTEx
rs4148959	NUDT8	cis	Heart Left Ventricle	GTEx
rs4148959	NUDT8	cis	Artery Tibial	GTEx
rs4148959	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs4148959	DOC2GP	cis	Esophagus Muscularis	GTEx
rs4148959	NDUFV1	cis	Thyroid	GTEx
rs4148959	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs4148959	NUDT8	cis	multi-tissue	Pritchard
rs4148959	NDUFV1	cis	Skin Sun Exposed Lower leg	GTEx
rs4148959	RP11-655M14.13	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67375200-67383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67375400-67381200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:67375400-67381400	Weak transcription	NH-A	brain
4	chr11:67375400-67381600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:67375400-67383000	Weak transcription	HUVEC	blood vessel
6	chr11:67375800-67381200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:67375800-67381200	Strong transcription	Fetal Stomach	stomach
8	chr11:67375800-67381200	Strong transcription	NHLF	lung
9	chr11:67375800-67381400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:67375800-67381600	Strong transcription	Fetal Brain Female	brain
11	chr11:67376000-67381200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr11:67376000-67381200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:67376000-67381200	Strong transcription	Fetal Intestine Small	intestine
14	chr11:67376000-67381200	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:67376000-67381400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:67376000-67381400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:67376000-67381400	Strong transcription	Brain Angular Gyrus	brain
18	chr11:67376000-67381400	Strong transcription	Brain Germinal Matrix	brain
19	chr11:67376000-67381600	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr11:67376200-67381200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:67376200-67381200	Strong transcription	Brain Anterior Caudate	brain
22	chr11:67376200-67381200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:67376200-67381200	Weak transcription	Fetal Heart	heart
24	chr11:67376200-67381400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:67376400-67381200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr11:67376400-67381400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr11:67376800-67381200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:67376800-67381200	Weak transcription	K562	blood
29	chr11:67377000-67382000	Weak transcription	Psoas Muscle	Psoas
30	chr11:67377200-67381400	Weak transcription	HSMM	muscle
31	chr11:67377400-67381200	Weak transcription	Fetal Kidney	kidney
32	chr11:67377800-67381600	Weak transcription	Hela-S3	cervix
33	chr11:67378600-67381400	Weak transcription	Osteobl	bone
34	chr11:67379000-67381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:67379200-67381400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:67379400-67381200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:67379400-67381600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:67379600-67381800	Weak transcription	HepG2	liver
39	chr11:67379600-67397000	Weak transcription	Aorta	Aorta
40	chr11:67379800-67381800	Weak transcription	Small Intestine	intestine
41	chr11:67379800-67382200	Weak transcription	Fetal Lung	lung
42	chr11:67380000-67381200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:67380200-67381200	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:67380200-67381200	Weak transcription	A549	lung
45	chr11:67380200-67381400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:67380200-67381400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:67380200-67381400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:67380200-67381400	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr11:67380200-67382000	Weak transcription	Ovary	ovary
50	chr11:67380400-67381200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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