Variant report

Variant	rs72922039
Chromosome Location	chr11:64013116-64013117
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	chr11:64007304-64013761	SK-N-SH	brain:	n/a	n/a
2	JUN	chr11:64012982-64013912	K562	blood:	n/a	chr11:64013381-64013391 chr11:64013367-64013376 chr11:64013382-64013390 chr11:64013677-64013686 chr11:64013381-64013391
3	POLR2A	chr11:64010486-64013696	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:64010352-64014103	U87	brain:	n/a	n/a
5	PML	chr11:64012552-64013989	GM12878	blood:	n/a	chr11:64013383-64013392
6	SPI1	chr11:64013096-64013275	K562	blood:	n/a	chr11:64013162-64013175
7	ELF1	chr11:64012634-64014027	GM12878	blood:	n/a	chr11:64013161-64013174
8	POLR2A	chr11:64012001-64014172	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:64012423-64013756	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:64012945-64013921	ECC-1	luminal epithelium:	n/a	n/a
11	EBF1	chr11:64012763-64013717	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:64007059-64014115	SK-N-MC	brain:	n/a	n/a
13	YY1	chr11:64013101-64013718	A549	lung:	n/a	chr11:64013492-64013503 chr11:64013124-64013135
14	POLR2A	chr11:64012532-64015014	Raji	blood:	n/a	n/a
15	POLR2A	chr11:64007265-64014108	U87	brain:	n/a	n/a
16	POLR2A	chr11:64012357-64015063	Hela-S3	cervix:	n/a	n/a
17	SMARCC1	chr11:64012921-64013909	Hela-S3	cervix:	n/a	chr11:64013382-64013391
18	POLR2A	chr11:64012420-64013895	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:64012877-64015154	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:64012881-64013664	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:64012033-64014459	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:64012363-64014645	GM12878	blood:	n/a	n/a
23	BCL3	chr11:64012561-64013718	A549	lung:	n/a	chr11:64013569-64013582 chr11:64013147-64013155 chr11:64013495-64013508
24	SIN3AK20	chr11:64012994-64013273	PFSK-1	brain:	n/a	n/a
25	SIN3AK20	chr11:64012864-64013718	PANC-1	pancreas:	n/a	n/a
26	ZBTB33	chr11:64013043-64013626	A549	lung:	n/a	n/a
27	POLR2A	chr11:64010538-64013831	GM12891	blood:	n/a	n/a
28	EP300	chr11:64012934-64013697	A549	lung:	n/a	chr11:64013163-64013177 chr11:64013164-64013173
29	MYC	chr11:64013064-64015171	NB4	blood:	n/a	chr11:64015051-64015061 chr11:64014159-64014168 chr11:64014330-64014340 chr11:64014159-64014168 chr11:64014158-64014168 chr11:64014160-64014167 chr11:64014158-64014169
30	NFATC1	chr11:64012991-64013650	GM12878	blood:	n/a	n/a
31	ZBTB7A	chr11:64012787-64013918	ECC-1	luminal epithelium:	n/a	chr11:64013064-64013072
32	ZBTB7A	chr11:64013027-64013935	ECC-1	luminal epithelium:	n/a	chr11:64013064-64013072
33	TEAD4	chr11:64013070-64013623	K562	blood:	n/a	n/a
34	POLR2A	chr11:64012166-64013713	HepG2	liver:	n/a	n/a
35	MAX	chr11:64012360-64014076	A549	lung:	n/a	chr11:64012948-64012958
36	MAX	chr11:64013066-64013682	NB4	blood:	n/a	n/a
37	SIN3AK20	chr11:64013016-64013727	A549	lung:	n/a	n/a
38	ETS1	chr11:64012969-64013675	A549	lung:	n/a	chr11:64013165-64013179 chr11:64013166-64013173
39	POLR2A	chr11:64010466-64013871	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:64007302-64015527	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:64012413-64013847	GM15510	blood:	n/a	n/a
42	POLR2A	chr11:64012442-64014138	GM12892	blood:	n/a	n/a
43	MXI1	chr11:64012365-64015586	IMR90	lung:	n/a	n/a
44	POLR2A	chr11:64012026-64015300	A549	lung:	n/a	n/a
45	POLR2A	chr11:64012645-64013911	GM18526	blood:	n/a	n/a
46	POLR2A	chr11:64012287-64015279	K562	blood:	n/a	n/a
47	POLR2A	chr11:64007111-64014311	GM12891	blood:	n/a	n/a
48	SIN3AK20	chr11:64013065-64013874	A549	lung:	n/a	n/a
49	SPI1	chr11:64013051-64013286	GM12878	blood:	n/a	chr11:64013162-64013175
50	CHD2	chr11:64012918-64013870	Hela-S3	cervix:	n/a	chr11:64012950-64012960

No.	Distal block	Cell Line	Cell type
1	chr11:64012590..64014829-chr11:64057902..64059525,2	MCF-7	breast:
2	chr11:64012924..64015359-chr11:64050536..64054535,6	MCF-7	breast:
3	chr11:64012363..64015118-chr11:64095317..64097895,3	MCF-7	breast:
4	chr11:62554646..62556730-chr11:64013046..64014548,2	MCF-7	breast:
5	chr11:64012378..64014719-chr11:64084381..64087113,3	K562	blood:
6	chr11:64012920..64014834-chr17:54968329..54970844,2	MCF-7	breast:
7	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
8	chr11:63951371..63956321-chr11:64011600..64016157,10	MCF-7	breast:
9	chr11:64013049..64014994-chr11:64052537..64054255,3	MCF-7	breast:
10	chr11:64011010..64014787-chr11:64081606..64086263,4	MCF-7	breast:
11	chr11:64012978..64013548-chr19:39926002..39926585,2	Hela-S3	cervix:
12	chr11:64012324..64016807-chr11:64110478..64112580,4	MCF-7	breast:
13	chr11:64011811..64014800-chr11:64054845..64057591,2	MCF-7	breast:
14	chr11:64012813..64019826-chr11:64070484..64074683,9	MCF-7	breast:
15	chr11:63962304..63965510-chr11:64012798..64015195,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256940	TF binding region
ENSG00000257069	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000236935	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000121060	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000265238	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000182450	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000185475	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1058735	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1059440	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11601024	0.87[AFR][1000 genomes]
rs11605738	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11607007	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11607144	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11607165	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12787852	0.82[AFR][1000 genomes]
rs12794145	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12798333	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12802950	0.81[AMR][1000 genomes]
rs2001003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2070765	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282490	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28395875	0.82[EUR][1000 genomes]
rs34358026	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35090903	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35458188	0.87[AFR][1000 genomes]
rs35524387	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35858916	0.87[AFR][1000 genomes]
rs3802933	0.84[AMR][1000 genomes]
rs67546972	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7111278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71479474	0.84[AFR][1000 genomes]
rs72920332	0.87[AFR][1000 genomes]
rs7478730	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7938380	0.82[EUR][1000 genomes]
rs7939107	0.81[EUR][1000 genomes]
rs882146	0.82[AFR][1000 genomes];0.81[AMR][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	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
26	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
27	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
28	nsv897673	chr11:63991581-64018687	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
29	nsv897675	chr11:63994692-64018687	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
30	nsv897676	chr11:63994692-64022459	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
31	nsv897677	chr11:63994692-64023971	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
32	nsv897678	chr11:63994692-64026144	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
33	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
34	nsv897680	chr11:63997338-64022459	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
35	nsv897681	chr11:63998240-64022459	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
36	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
37	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
38	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
39	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
40	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
41	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
42	nsv983032	chr11:64011401-64015138	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72922039	TRPT1	cis	Muscle Skeletal	GTEx
rs72922039	PPP1R14B	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64009400-64013200	Enhancers	Fetal Brain Male	brain
2	chr11:64010000-64013200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:64010000-64013600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:64010200-64013200	Weak transcription	Fetal Kidney	kidney
5	chr11:64010600-64013800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:64011000-64013200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
7	chr11:64011400-64013200	Weak transcription	Ovary	ovary
8	chr11:64011800-64015800	Active TSS	HSMMtube	muscle
9	chr11:64012000-64013200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:64012000-64015600	Active TSS	HSMM	muscle
11	chr11:64012200-64013200	Flanking Active TSS	Hela-S3	cervix
12	chr11:64012200-64013400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:64012200-64013800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:64012400-64013200	Active TSS	Right Ventricle	heart
15	chr11:64012400-64013400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:64012400-64013400	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr11:64012400-64013400	Transcr. at gene 5' and 3'	K562	blood
18	chr11:64012400-64013600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:64012400-64013600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:64012400-64013600	Flanking Active TSS	Thymus	Thymus
21	chr11:64012400-64013600	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr11:64012400-64013800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:64012400-64013800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:64012400-64013800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr11:64012400-64013800	Transcr. at gene 5' and 3'	A549	lung
26	chr11:64012400-64014000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:64012600-64013200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:64012600-64013200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:64012600-64013200	Enhancers	Brain Anterior Caudate	brain
30	chr11:64012600-64013400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:64012600-64013400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr11:64012600-64013400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:64012600-64013400	Enhancers	Fetal Heart	heart
34	chr11:64012600-64013400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr11:64012600-64013400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr11:64012600-64013600	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:64012600-64013600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:64012600-64013600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:64012600-64013600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:64012600-64013600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:64012600-64013600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr11:64012600-64013800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:64012600-64013800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr11:64012600-64013800	Flanking Active TSS	Colonic Mucosa	Colon
45	chr11:64012600-64013800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr11:64012600-64013800	Flanking Active TSS	Placenta	Placenta
47	chr11:64012600-64014000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr11:64012600-64014000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:64012600-64014400	Active TSS	GM12878-XiMat	blood
50	chr11:64012600-64015200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links