Variant report

Variant	rs2228155
Chromosome Location	chr12:63544134-63544135
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	CTBP2	chr12:63543651-63545351	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:63543791-63544411	H1-neurons	neurons:	n/a	n/a
3	BACH1	chr12:63544074-63544342	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr12:63544134-63544298	MCF-7	breast:	n/a	n/a
5	E2F6	chr12:63543589-63545750	H1-hESC	embryonic stem cell:	n/a	chr12:63544721-63544732 chr12:63545655-63545662 chr12:63543862-63543877 chr12:63544722-63544733 chr12:63544721-63544731 chr12:63545113-63545120 chr12:63545655-63545662 chr12:63544722-63544729 chr12:63545113-63545120 chr12:63544722-63544730 chr12:63544722-63544730 chr12:63543759-63543774 chr12:63545113-63545120 chr12:63545655-63545662
6	CHD2	chr12:63543928-63544259	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr12:63543863-63546155	H1-hESC	embryonic stem cell:	n/a	n/a
8	SUZ12	chr12:63543624-63545325	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr12:63544038-63544437	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF2	chr12:63543909-63544673	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBP	chr12:63543836-63545000	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:63543809-63544455	H1-neurons	neurons:	n/a	n/a
13	MXI1	chr12:63544041-63544660	H1-hESC	embryonic stem cell:	n/a	n/a
14	SUZ12	chr12:63543682-63545671	NT2-D1	testis:	n/a	n/a
15	MAX	chr12:63544130-63545475	ECC-1	luminal epithelium:	n/a	chr12:63544931-63544940
16	POLR2A	chr12:63544099-63544221	MCF-7	breast:	n/a	n/a
17	MAX	chr12:63543776-63545400	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
18	TCF12	chr12:63543941-63544356	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr12:63543627-63545405	H1-hESC	embryonic stem cell:	n/a	chr12:63544721-63544732 chr12:63543862-63543877 chr12:63544722-63544733 chr12:63544721-63544731 chr12:63545113-63545120 chr12:63544722-63544729 chr12:63545113-63545120 chr12:63544722-63544730 chr12:63544722-63544730 chr12:63543759-63543774 chr12:63545113-63545120
20	MAX	chr12:63543660-63545455	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
21	ZNF143	chr12:63544003-63544962	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr12:63543946-63544476	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr12:63543614-63545445	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
24	MYC	chr12:63544104-63544385	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
AVPR1A	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1146104	1.00[EUR][1000 genomes]
rs12308434	1.00[EUR][1000 genomes]
rs56273638	1.00[EUR][1000 genomes]
rs59197805	1.00[EUR][1000 genomes]
rs59727783	1.00[EUR][1000 genomes]
rs60555289	1.00[EUR][1000 genomes]
rs60790785	1.00[EUR][1000 genomes]
rs699594	1.00[EUR][1000 genomes]
rs7304068	1.00[EUR][1000 genomes]
rs7315184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74097303	1.00[EUR][1000 genomes]
rs74097306	1.00[EUR][1000 genomes]
rs74097307	1.00[EUR][1000 genomes]
rs74097309	1.00[EUR][1000 genomes]
rs74097311	1.00[EUR][1000 genomes]
rs74097312	1.00[EUR][1000 genomes]
rs74097313	1.00[EUR][1000 genomes]
rs74097315	1.00[EUR][1000 genomes]
rs74097316	1.00[EUR][1000 genomes]
rs74097317	1.00[EUR][1000 genomes]
rs74100818	1.00[EUR][1000 genomes]
rs74100819	1.00[EUR][1000 genomes]
rs74100820	1.00[EUR][1000 genomes]
rs74100821	1.00[EUR][1000 genomes]
rs74100822	1.00[EUR][1000 genomes]
rs74100823	1.00[EUR][1000 genomes]
rs7960001	1.00[EUR][1000 genomes]
rs7961102	1.00[EUR][1000 genomes]
rs7969071	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv469592	chr12:63486510-63679139	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv482578	chr12:63486510-63679139	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv832436	chr12:63503993-63658112	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2761742	chr12:63537412-63582333	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1035231	chr12:63537412-63582333	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv899164	chr12:63540476-63611633	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63542600-63545200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:63542800-63545000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr12:63543200-63546400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:63543600-63544200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr12:63543600-63544200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr12:63543600-63544200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr12:63543600-63544200	Bivalent Enhancer	Fetal Thymus	thymus
8	chr12:63543600-63544200	Bivalent/Poised TSS	Ovary	ovary
9	chr12:63543600-63544400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr12:63543600-63544400	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr12:63543600-63544400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr12:63543600-63544600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr12:63543600-63544600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:63543600-63544600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
15	chr12:63543600-63545000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:63543600-63545200	ZNF genes & repeats	Spleen	Spleen
17	chr12:63543600-63545400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:63543600-63545800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:63543600-63546000	Flanking Active TSS	Pancreas	Pancrea
20	chr12:63543600-63546000	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr12:63543600-63546000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr12:63543800-63544200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:63543800-63544200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:63543800-63544200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr12:63543800-63544200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:63543800-63544200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr12:63543800-63544200	Bivalent/Poised TSS	Esophagus	oesophagus
28	chr12:63543800-63544200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
29	chr12:63543800-63544200	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr12:63543800-63544400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr12:63543800-63544400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
32	chr12:63543800-63544600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:63543800-63544600	Flanking Active TSS	Right Atrium	heart
34	chr12:63543800-63544800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr12:63543800-63544800	Bivalent Enhancer	Fetal Lung	lung
36	chr12:63543800-63544800	Bivalent Enhancer	Lung	lung
37	chr12:63543800-63545000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
38	chr12:63543800-63545200	Flanking Active TSS	Gastric	stomach
39	chr12:63543800-63545200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
42	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
43	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr12:63543800-63545600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr12:63543800-63545600	Bivalent/Poised TSS	Fetal Kidney	kidney
46	chr12:63543800-63546000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr12:63543800-63546000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr12:63543800-63546000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr12:63543800-63546000	Active TSS	Aorta	Aorta

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