Variant report

Variant	rs2228153
Chromosome Location	chr12:63544326-63544327
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	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	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
5	MYC	chr12:63544285-63544367	MCF-7	breast:	n/a	n/a
6	SIN3A	chr12:63543863-63546155	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr12:63543624-63545325	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr12:63544038-63544437	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF2	chr12:63543909-63544673	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr12:63543836-63545000	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:63543809-63544455	H1-neurons	neurons:	n/a	n/a
12	MXI1	chr12:63544041-63544660	H1-hESC	embryonic stem cell:	n/a	n/a
13	SUZ12	chr12:63543682-63545671	NT2-D1	testis:	n/a	n/a
14	POLR2A	chr12:63544151-63544350	A549	lung:	n/a	n/a
15	MAX	chr12:63544130-63545475	ECC-1	luminal epithelium:	n/a	chr12:63544931-63544940
16	POLR2A	chr12:63544220-63544753	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr12:63543776-63545400	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
18	POLR2A	chr12:63544308-63544487	MCF-7	breast:	n/a	n/a
19	TCF12	chr12:63543941-63544356	H1-hESC	embryonic stem cell:	n/a	n/a
20	GABPA	chr12:63544272-63544790	H1-hESC	embryonic stem cell:	n/a	n/a
21	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
22	MAX	chr12:63543660-63545455	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
23	ZNF143	chr12:63544003-63544962	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr12:63543946-63544476	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:63544155-63544418	MCF-7	breast:	n/a	n/a
26	MAX	chr12:63543614-63545445	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
27	MYC	chr12:63544104-63544385	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63544319-63544369	SK-N-MC	brain:	n/a
2	chr12:63544319-63544369	T-47D	breast:	n/a
3	chr12:63544319-63544369	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:63544319-63544369	BJ	skin:	n/a
5	chr12:63544319-63544369	PrEC	prostate:	n/a
6	chr12:63544319-63544369	GM19239	blood:	n/a
7	chr12:63544319-63544369	ProgFib	skin:	n/a
8	chr12:63544319-63544369	HL-60	blood:	n/a
9	chr12:63544319-63544369	MCF-7	breast:	n/a
10	chr12:63544319-63544369	PFSK-1	brain:	n/a
11	chr12:63544319-63544369	NT2-D1	testis:	n/a
12	chr12:63544319-63544369	ovcar-3	ovarian:	n/a
13	chr12:63544319-63544369	AG09309	skin:	n/a
14	chr12:63544319-63544369	PANC-1	pancreas:	n/a
15	chr12:63544319-63544369	ECC-1	luminal epithelium:	n/a
16	chr12:63544319-63544369	GM12891	blood:	n/a
17	chr12:63544319-63544369	HRPEpiC	eye:	n/a
18	chr12:63544319-63544369	NHDF-neo	bronchial:	n/a
19	chr12:63544319-63544369	HCPEpiC	choroid plexus:	n/a
20	chr12:63544319-63544369	Hepatocyte	liver:	n/a
21	chr12:63544319-63544369	Caco-2	colon:	n/a
22	chr12:63544319-63544369	NHBE	bronchial:	n/a
23	chr12:63544319-63544369	K562	blood:	n/a
24	chr12:63544319-63544369	A549	lung:	n/a
25	chr12:63544319-63544369	H1-hESC	embryonic stem cell:	embryo
26	chr12:63544319-63544369	Hela-S3	cervix:	n/a
27	chr12:63544319-63544369	SAEC	small airway:	n/a
28	chr12:63544319-63544369	HCM	heart:	n/a
29	chr12:63544319-63544369	AG04449	skin:	fetal
30	chr12:63544319-63544369	HUVEC	blood vessel:	n/a
31	chr12:63544319-63544369	NH-A	brain:	n/a
32	chr12:63544319-63544369	MCF10A-Er-Src	breast:	n/a
33	chr12:63544319-63544369	GM06990	blood:	n/a
34	chr12:63544319-63544369	BE2_C	brain:	n/a
35	chr12:63544319-63544369	HNPCEpiC	eye:	n/a
36	chr12:63544319-63544369	HCT-116	colon:	n/a
37	chr12:63544319-63544369	RPTEC	kidney:	n/a
38	chr12:63544319-63544369	HRE	kidney:	n/a
39	chr12:63544319-63544369	HCF	heart:	n/a
40	chr12:63544319-63544369	SK-N-SH_RA	brain:	n/a
41	chr12:63544319-63544369	GM12892	blood:	n/a
42	chr12:63544319-63544369	HEEpiC	esophagus:	n/a
43	chr12:63544319-63544369	AG04450	lung:	fetal
44	chr12:63544319-63544369	IMR90	lung:	fetal
45	chr12:63544319-63544369	SKMC	muscle:	n/a
46	chr12:63544319-63544369	U87	brain:	n/a
47	chr12:63544319-63544369	LNCaP	prostate:	n/a
48	chr12:63544319-63544369	HRCEpiC	kidney:	n/a
49	chr12:63544319-63544369	GM12878	blood:	n/a
50	chr12:63544319-63544369	HEK293	kidney:	embryo

Variant related genes	Relation type
AVPR1A	TF binding region
AVPR1A	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2228154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3021530	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3021531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327843	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74097660	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:96 , 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	chr12:63543600-63544400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr12:63543600-63544400	Bivalent/Poised TSS	Colonic Mucosa	Colon
6	chr12:63543600-63544400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr12:63543600-63544600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr12:63543600-63544600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:63543600-63544600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
10	chr12:63543600-63545000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:63543600-63545200	ZNF genes & repeats	Spleen	Spleen
12	chr12:63543600-63545400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:63543600-63545800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:63543600-63546000	Flanking Active TSS	Pancreas	Pancrea
15	chr12:63543600-63546000	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr12:63543600-63546000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr12:63543800-63544400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr12:63543800-63544400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
19	chr12:63543800-63544600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:63543800-63544600	Flanking Active TSS	Right Atrium	heart
21	chr12:63543800-63544800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
22	chr12:63543800-63544800	Bivalent Enhancer	Fetal Lung	lung
23	chr12:63543800-63544800	Bivalent Enhancer	Lung	lung
24	chr12:63543800-63545000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
25	chr12:63543800-63545200	Flanking Active TSS	Gastric	stomach
26	chr12:63543800-63545200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
27	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
29	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
30	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr12:63543800-63545600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:63543800-63545600	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr12:63543800-63546000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr12:63543800-63546000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr12:63543800-63546000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr12:63543800-63546000	Active TSS	Aorta	Aorta
38	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr12:63543800-63546000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr12:63543800-63546000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:63543800-63546200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:63543800-63546200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr12:63543800-63546800	Flanking Active TSS	Liver	Liver
47	chr12:63544000-63544400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:63544000-63544400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
49	chr12:63544000-63544400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
50	chr12:63544000-63544400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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