Variant report

Variant	rs3021531
Chromosome Location	chr12:63544704-63544705
allele	C/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	CHD1	chr12:63544502-63544718	H1-hESC	embryonic stem cell:	n/a	n/a
3	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
4	SIN3A	chr12:63543863-63546155	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr12:63543624-63545325	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr12:63543836-63545000	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr12:63543682-63545671	NT2-D1	testis:	n/a	n/a
8	CHD2	chr12:63544525-63544972	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:63544130-63545475	ECC-1	luminal epithelium:	n/a	chr12:63544931-63544940
10	POLR2A	chr12:63544220-63544753	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr12:63543776-63545400	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
12	E2F6	chr12:63544457-63544853	A549	lung:	n/a	chr12:63544721-63544732 chr12:63544722-63544733 chr12:63544721-63544731 chr12:63544722-63544729 chr12:63544722-63544730 chr12:63544722-63544730
13	GABPA	chr12:63544272-63544790	H1-hESC	embryonic stem cell:	n/a	n/a
14	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
15	MAX	chr12:63543660-63545455	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940
16	ZNF263	chr12:63544346-63546142	HEK293-T-REx	kidney:	n/a	chr12:63545887-63545896
17	ZNF143	chr12:63544003-63544962	H1-hESC	embryonic stem cell:	n/a	n/a
18	GTF2F1	chr12:63544650-63544818	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr12:63544527-63545000	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr12:63544445-63545483	A549	lung:	n/a	chr12:63544931-63544940
21	KAP1	chr12:63544476-63546436	HEK293	kidney:	n/a	n/a
22	MAX	chr12:63543614-63545445	H1-hESC	embryonic stem cell:	n/a	chr12:63544931-63544940

Variant related genes	Relation type
AVPR1A	TF binding region

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

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

rs_ID	r²[population]
rs2228153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2228154	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3021530	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[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:105 , 50 per page) page: 1 2 3

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	chr12:63543600-63545000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:63543600-63545200	ZNF genes & repeats	Spleen	Spleen
6	chr12:63543600-63545400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:63543600-63545800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:63543600-63546000	Flanking Active TSS	Pancreas	Pancrea
9	chr12:63543600-63546000	Bivalent/Poised TSS	Psoas Muscle	Psoas
10	chr12:63543600-63546000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr12:63543800-63544800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
12	chr12:63543800-63544800	Bivalent Enhancer	Fetal Lung	lung
13	chr12:63543800-63544800	Bivalent Enhancer	Lung	lung
14	chr12:63543800-63545000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
15	chr12:63543800-63545200	Flanking Active TSS	Gastric	stomach
16	chr12:63543800-63545200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
19	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
20	chr12:63543800-63545400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr12:63543800-63545600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:63543800-63545600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr12:63543800-63546000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:63543800-63546000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr12:63543800-63546000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr12:63543800-63546000	Active TSS	Aorta	Aorta
28	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr12:63543800-63546000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr12:63543800-63546000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr12:63543800-63546000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:63543800-63546200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:63543800-63546200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr12:63543800-63546800	Flanking Active TSS	Liver	Liver
37	chr12:63544000-63544800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:63544000-63544800	Bivalent Enhancer	Fetal Heart	heart
39	chr12:63544000-63545000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:63544000-63545400	Flanking Bivalent TSS/Enh	Thymus	Thymus
41	chr12:63544000-63545800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:63544000-63546000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr12:63544000-63546000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr12:63544000-63546000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr12:63544000-63546000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:63544000-63546000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:63544000-63546000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:63544000-63546000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:63544200-63544800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:63544200-63544800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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