Variant report

Variant	rs4148960
Chromosome Location	chr11:67381657-67381658
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	chr11:67381226-67382067	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr11:67381581-67381850	K562	blood:	n/a	n/a
3	RELA	chr11:67381326-67381916	GM19193	blood:	n/a	chr11:67381600-67381609 chr11:67381600-67381609
4	CTCF	chr11:67381569-67381988	K562	blood:	n/a	chr11:67381808-67381817 chr11:67381808-67381821 chr11:67381805-67381823 chr11:67381810-67381820 chr11:67381808-67381821 chr11:67381807-67381828 chr11:67381806-67381822
5	POLR2A	chr11:67380724-67382183	HL-60	blood:	n/a	n/a
6	YY1	chr11:67381215-67381817	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:67381196-67381879	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:67378359-67383489	K562	blood:	n/a	n/a
9	POLR2A	chr11:67381232-67382365	GM19193	blood:	n/a	n/a
10	POLR2A	chr11:67381196-67382313	GM19099	blood:	n/a	n/a
11	RELA	chr11:67381236-67382183	GM19099	blood:	n/a	chr11:67381600-67381609 chr11:67381600-67381609
12	NRF1	chr11:67381258-67381690	GM12878	blood:	n/a	n/a
13	NR2F2	chr11:67381540-67381952	K562	blood:	n/a	n/a
14	CEBPB	chr11:67381635-67381867	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr11:67381381-67381778	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:67379915-67382363	SK-N-MC	brain:	n/a	n/a
17	BATF	chr11:67381278-67381659	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:67380084-67383515	GM12892	blood:	n/a	n/a
19	CTCF	chr11:67381631-67381976	HepG2	liver:	n/a	chr11:67381808-67381817 chr11:67381808-67381821 chr11:67381805-67381823 chr11:67381810-67381820 chr11:67381808-67381821 chr11:67381807-67381828 chr11:67381806-67381822
20	SMC3	chr11:67381353-67381945	GM12878	blood:	n/a	chr11:67381811-67381821 chr11:67381807-67381821
21	CTCF	chr11:67381606-67381945	GM12892	blood:	n/a	chr11:67381808-67381817 chr11:67381808-67381821 chr11:67381805-67381823 chr11:67381810-67381820 chr11:67381808-67381821 chr11:67381807-67381828 chr11:67381806-67381822
22	POLR2A	chr11:67381191-67381963	Raji	blood:	n/a	n/a
23	POLR2A	chr11:67381227-67382387	GM12878	blood:	n/a	n/a
24	TAF1	chr11:67381429-67381861	GM12891	blood:	n/a	n/a
25	PAX5	chr11:67381321-67382159	GM12878	blood:	n/a	n/a
26	CTCF	chr11:67381539-67381946	Spleen_OC	spleen:	n/a	chr11:67381808-67381817 chr11:67381808-67381821 chr11:67381805-67381823 chr11:67381810-67381820 chr11:67381808-67381821 chr11:67381807-67381828 chr11:67381806-67381822
27	POLR2A	chr11:67381192-67382197	GM12891	blood:	n/a	n/a
28	YY1	chr11:67381181-67381737	GM12892	blood:	n/a	n/a
29	RAD21	chr11:67381580-67382005	H1-hESC	embryonic stem cell:	n/a	chr11:67381811-67381821 chr11:67381809-67381822 chr11:67381922-67381929 chr11:67381806-67381825
30	PML	chr11:67381052-67382365	GM12878	blood:	n/a	n/a
31	RFX5	chr11:67381526-67382096	GM12878	blood:	n/a	n/a
32	BHLHE40	chr11:67381326-67382041	GM12878	blood:	n/a	n/a
33	RELA	chr11:67381254-67381978	GM12892	blood:	n/a	chr11:67381600-67381609 chr11:67381600-67381609
34	CTCF	chr11:67381652-67381942	GM19240	blood:	n/a	chr11:67381808-67381817 chr11:67381808-67381821 chr11:67381805-67381823 chr11:67381810-67381820 chr11:67381808-67381821 chr11:67381807-67381828 chr11:67381806-67381822
35	CTCF	chr11:67381486-67382005	GM12878	blood:	n/a	chr11:67381808-67381817 chr11:67381808-67381821 chr11:67381805-67381823 chr11:67381810-67381820 chr11:67381808-67381821 chr11:67381807-67381828 chr11:67381806-67381822
36	POU2F2	chr11:67381264-67382043	GM12891	blood:	n/a	n/a
37	ATF2	chr11:67381266-67381879	GM12878	blood:	n/a	n/a
38	PAX5	chr11:67381365-67382038	GM12878	blood:	n/a	n/a
39	REST	chr11:67381459-67381707	Hela-S3	cervix:	n/a	n/a
40	ZNF263	chr11:67381334-67382059	HEK293-T-REx	kidney:	n/a	chr11:67381542-67381551 chr11:67381837-67381846
41	MYC	chr11:67381521-67381753	MCF10A-Er-Src	breast:	n/a	n/a
42	YY1	chr11:67381278-67381842	GM12891	blood:	n/a	chr11:67381817-67381831 chr11:67381814-67381823
43	USF2	chr11:67381155-67381782	GM12878	blood:	n/a	chr11:67381288-67381299
44	CTCF	chr11:67381552-67382119	MCF-7	breast:	n/a	chr11:67381808-67381817 chr11:67381808-67381821 chr11:67381805-67381823 chr11:67381810-67381820 chr11:67381808-67381821 chr11:67381807-67381828 chr11:67381806-67381822
45	WRNIP1	chr11:67381223-67381868	GM12878	blood:	n/a	n/a
46	SMC3	chr11:67381655-67381964	HepG2	liver:	n/a	chr11:67381811-67381821 chr11:67381807-67381821
47	TCF12	chr11:67381457-67381903	GM12878	blood:	n/a	n/a
48	CCNT2	chr11:67381563-67382169	K562	blood:	n/a	chr11:67381814-67381823
49	ZEB1	chr11:67381355-67381853	GM12878	blood:	n/a	n/a
50	PAX5	chr11:67381460-67381865	GM12892	blood:	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	chr11:67381470..67382086-chr11:67396612..67397307,2	MCF-7	breast:
4	chr11:67349088..67352896-chr11:67377453..67387652,15	K562	blood:
5	chr11:67381523..67384459-chr11:67405193..67407535,2	MCF-7	breast:
6	chr11:67377022..67387637-chr11:67394926..67400114,17	MCF-7	breast:
7	chr11:67380957..67389846-chr11:67394173..67403228,21	K562	blood:
8	chr11:67378665..67384491-chr11:67395408..67398335,5	MCF-7	breast:
9	chr11:67348020..67353194-chr11:67379787..67385803,14	K562	blood:
10	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:
11	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:

Variant related genes	Relation type
DOC2GP	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000167800	Chromatin interaction
ENSG00000230607	Chromatin interaction
ENSG00000255318	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000132746	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10791908	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896185	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10896186	0.92[EUR][1000 genomes]
rs10896190	0.91[EUR][1000 genomes]
rs11227845	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11227862	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227866	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11603991	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12416994	0.91[ASN][1000 genomes]
rs12421329	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12790798	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12792496	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12793832	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12798262	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1531514	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1638560	1.00[CEU][hapmap]
rs1871043	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2126717	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2126718	0.93[EUR][1000 genomes]
rs2126719	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2187002	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2447595	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2447596	0.87[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	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2514022	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3765088	0.92[EUR][1000 genomes]
rs4024254	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148959	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	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4930450	0.93[ASN][1000 genomes]
rs56092845	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs596603	0.84[EUR][1000 genomes]
rs61894496	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs640777	0.83[EUR][1000 genomes]
rs6591259	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7103632	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7108038	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7108149	0.86[ASN][1000 genomes]
rs7130679	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937159	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7939505	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7948073	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950707	0.83[ASN][1000 genomes]

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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4148960	NDUFV1	cis	Skin Sun Exposed Lower leg	GTEx
rs4148960	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs4148960	NUDT8	cis	Heart Left Ventricle	GTEx
rs4148960	DOC2GP	cis	Artery Tibial	GTEx
rs4148960	RP11-655M14.13	cis	Esophagus Muscularis	GTEx
rs4148960	DOC2GP	cis	Esophagus Muscularis	GTEx
rs4148960	NUDT8	cis	Artery Tibial	GTEx
rs4148960	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs4148960	NDUFV1	cis	Thyroid	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	chr11:67375400-67383000	Weak transcription	HUVEC	blood vessel
3	chr11:67377000-67382000	Weak transcription	Psoas Muscle	Psoas
4	chr11:67379600-67381800	Weak transcription	HepG2	liver
5	chr11:67379600-67397000	Weak transcription	Aorta	Aorta
6	chr11:67379800-67381800	Weak transcription	Small Intestine	intestine
7	chr11:67379800-67382200	Weak transcription	Fetal Lung	lung
8	chr11:67380200-67382000	Weak transcription	Ovary	ovary
9	chr11:67380600-67382800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:67381000-67382200	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:67381000-67382200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:67381000-67383200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:67381000-67384000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:67381000-67384200	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:67381000-67385400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:67381200-67381800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:67381200-67381800	Enhancers	Brain Substantia Nigra	brain
18	chr11:67381200-67382000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr11:67381200-67382000	Enhancers	Liver	Liver
20	chr11:67381200-67382000	Flanking Active TSS	Esophagus	oesophagus
21	chr11:67381200-67382200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr11:67381200-67382200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:67381200-67382200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:67381200-67382200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:67381200-67382200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr11:67381200-67382200	Enhancers	Gastric	stomach
27	chr11:67381200-67382200	Enhancers	Right Atrium	heart
28	chr11:67381200-67382200	Enhancers	A549	lung
29	chr11:67381200-67382400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:67381200-67382400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr11:67381200-67382400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:67381200-67382400	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:67381200-67382600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:67381200-67382600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr11:67381200-67382600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:67381200-67382800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:67381200-67382800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:67381200-67382800	Enhancers	Fetal Heart	heart
39	chr11:67381200-67382800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:67381200-67383200	Weak transcription	Brain Anterior Caudate	brain
41	chr11:67381200-67383200	Weak transcription	NHLF	lung
42	chr11:67381200-67383400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:67381200-67383600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:67381200-67383600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:67381200-67384200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:67381200-67384200	Enhancers	Spleen	Spleen
47	chr11:67381400-67381800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:67381400-67381800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:67381400-67381800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:67381400-67381800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links