Variant report

Variant	rs3808972
Chromosome Location	chr11:67442350-67442351
allele	C/T
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	SIN3AK20	chr11:67441669-67443124	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr11:67441832-67442503	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:67441883-67442376	MCF-7	breast:	n/a	n/a
4	STAT3	chr11:67442137-67442387	MCF10A-Er-Src	breast:	n/a	chr11:67442302-67442311 chr11:67442299-67442313 chr11:67442301-67442310
5	NR2F2	chr11:67441821-67442640	MCF-7	breast:	n/a	n/a
6	NFIC	chr11:67441913-67442579	ECC-1	luminal epithelium:	n/a	n/a
7	FOXA1	chr11:67442027-67442454	T-47D	breast:	n/a	n/a
8	HDAC2	chr11:67441771-67442721	MCF-7	breast:	n/a	chr11:67442605-67442624
9	CEBPB	chr11:67441860-67442529	MCF-7	breast:	n/a	n/a
10	ZNF217	chr11:67441935-67442568	MCF-7	breast:	n/a	n/a
11	PML	chr11:67441894-67442504	MCF-7	breast:	n/a	n/a
12	EP300	chr11:67441896-67442540	MCF-7	breast:	n/a	n/a
13	SP1	chr11:67441942-67442630	HCT-116	colon:	n/a	chr11:67442218-67442229 chr11:67442219-67442233
14	MYC	chr11:67441985-67442367	MCF-7	breast:	n/a	chr11:67442124-67442133
15	SP1	chr11:67442025-67442382	H1-hESC	embryonic stem cell:	n/a	chr11:67442218-67442229 chr11:67442219-67442233
16	MAX	chr11:67442017-67442478	ECC-1	luminal epithelium:	n/a	chr11:67442124-67442133
17	TCF12	chr11:67441943-67442590	ECC-1	luminal epithelium:	n/a	chr11:67442574-67442581
18	EP300	chr11:67441893-67442622	MCF-7	breast:	n/a	n/a
19	NR2F2	chr11:67442018-67442630	MCF-7	breast:	n/a	n/a
20	HDAC2	chr11:67441951-67442567	MCF-7	breast:	n/a	n/a
21	ELF1	chr11:67441908-67442731	MCF-7	breast:	n/a	n/a
22	TCF12	chr11:67441877-67442654	ECC-1	luminal epithelium:	n/a	chr11:67442574-67442581
23	GATA3	chr11:67442032-67442521	MCF-7	breast:	n/a	n/a
24	FOXA1	chr11:67441971-67442394	T-47D	breast:	n/a	n/a
25	TEAD4	chr11:67441969-67442507	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:67442086-67442446	ECC-1	luminal epithelium:	n/a	n/a
27	EP300	chr11:67441998-67442509	ECC-1	luminal epithelium:	n/a	n/a
28	GATA3	chr11:67441880-67442881	MCF-7	breast:	n/a	n/a
29	GATA3	chr11:67441946-67442515	T-47D	breast:	n/a	n/a
30	ESR1	chr11:67442013-67442466	T-47D	breast:	n/a	n/a
31	GABPA	chr11:67441917-67442505	MCF-7	breast:	n/a	n/a
32	CHD2	chr11:67442173-67442373	H1-hESC	embryonic stem cell:	n/a	n/a
33	EP300	chr11:67441915-67442421	T-47D	breast:	n/a	n/a
34	MAX	chr11:67442006-67442526	ECC-1	luminal epithelium:	n/a	chr11:67442124-67442133
35	GATA3	chr11:67441868-67442613	MCF-7	breast:	n/a	n/a
36	MAX	chr11:67441766-67442646	MCF-7	breast:	n/a	chr11:67442124-67442133
37	EP300	chr11:67441906-67442532	T-47D	breast:	n/a	n/a
38	TCF12	chr11:67441668-67442759	MCF-7	breast:	n/a	chr11:67442574-67442581
39	GATA3	chr11:67441971-67442538	T-47D	breast:	n/a	n/a
40	MAX	chr11:67441849-67442530	MCF-7	breast:	n/a	chr11:67442124-67442133
41	EP300	chr11:67441996-67442591	ECC-1	luminal epithelium:	n/a	n/a
42	TEAD4	chr11:67441924-67442540	ECC-1	luminal epithelium:	n/a	n/a
43	SP1	chr11:67442076-67442497	H1-hESC	embryonic stem cell:	n/a	chr11:67442218-67442229 chr11:67442219-67442233
44	CEBPB	chr11:67441909-67442438	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr11:67441895-67442592	ECC-1	luminal epithelium:	n/a	n/a
46	ELF1	chr11:67441797-67442661	MCF-7	breast:	n/a	n/a
47	CEBPB	chr11:67441830-67442484	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67437911..67440480-chr11:67441652..67443889,5	MCF-7	breast:
2	chr11:67438405..67443993-chr11:67447780..67452157,7	MCF-7	breast:
3	chr11:67397074..67400069-chr11:67440700..67443508,3	K562	blood:
4	chr11:67434481..67439568-chr11:67439660..67443258,9	MCF-7	breast:
5	chr11:67433386..67435111-chr11:67439487..67442786,3	MCF-7	breast:
6	chr11:67397074..67400069-chr11:67440700..67443508,2	K562	blood:

Variant related genes	Relation type
ALDH3B2	TF binding region
ENSG00000239559	Chromatin interaction
ENSG00000132746	Chromatin interaction
ENSG00000167799	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2514049	1.00[JPT][hapmap]
rs2514063	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv897826	chr11:67408791-67462549	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv555274	chr11:67433869-67752972	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
26	esv1810710	chr11:67437879-67442661	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67434000-67442400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:67440800-67443200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:67441200-67443200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:67441200-67443400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:67441400-67442600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:67441400-67443000	Enhancers	NHEK	skin
7	chr11:67441400-67443400	Enhancers	Stomach Mucosa	stomach
8	chr11:67441600-67443200	Enhancers	Gastric	stomach
9	chr11:67441600-67443200	Enhancers	Pancreas	Pancrea
10	chr11:67441600-67443200	Enhancers	HMEC	breast
11	chr11:67441800-67442800	Enhancers	Colonic Mucosa	Colon
12	chr11:67441800-67442800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:67442000-67442600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:67442000-67442600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:67442000-67443200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:67442200-67442600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:67442200-67442800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:67442200-67442800	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:67442200-67443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:67442200-67443200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:67442200-67443400	Enhancers	Esophagus	oesophagus
22	chr11:67442200-67443400	Enhancers	Placenta	Placenta
23	chr11:67442200-67443400	Enhancers	Rectal Mucosa Donor 29	rectum

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