Variant report

Variant	rs13020276
Chromosome Location	chr2:10915449-10915450
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	POLR2A	chr2:10915268-10915562	K562	blood:	n/a	n/a
2	ZNF263	chr2:10915113-10916484	K562	blood:	n/a	chr2:10916357-10916366 chr2:10916092-10916101 chr2:10915279-10915288
3	POLR2A	chr2:10914505-10916266	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr2:10914874-10915720	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:10915153-10919303	K562	blood:	n/a	n/a
6	POLR2A	chr2:10915101-10916210	HepG2	liver:	n/a	n/a
7	ZNF263	chr2:10914777-10916516	HEK293-T-REx	kidney:	n/a	chr2:10916357-10916366 chr2:10916092-10916101 chr2:10915279-10915288

No.	Distal block	Cell Line	Cell type
1	chr2:10850840..10852513-chr2:10914222..10915993,2	MCF-7	breast:
2	chr2:10912736..10915766-chr2:10920191..10922104,3	MCF-7	breast:
3	chr2:10905922..10908917-chr2:10914932..10916687,3	MCF-7	breast:
4	chr2:10911679..10916866-chr2:10918103..10925152,7	K562	blood:
5	chr2:10913988..10915917-chr2:10917137..10920155,3	MCF-7	breast:

Variant related genes	Relation type
ATP6V1C2	TF binding region
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1114868	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11904084	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1198873	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12618817	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1387569	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1387570	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1387571	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1489613	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1614107	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1615421	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1616297	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1625104	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1625940	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686418	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686423	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686424	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686425	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686426	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686427	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686430	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686431	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1686433	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686434	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686435	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686436	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686437	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686438	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686439	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686442	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686443	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686444	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686445	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686446	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686447	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686482	0.88[ASN][1000 genomes]
rs1686512	0.81[ASN][1000 genomes]
rs1686513	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686514	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686515	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686517	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686518	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686519	0.82[ASN][1000 genomes]
rs1686520	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734338	0.84[ASN][1000 genomes]
rs1734341	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734342	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734343	0.82[ASN][1000 genomes]
rs1734345	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734346	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734348	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1734349	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734350	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734351	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734352	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734353	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734354	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734355	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734356	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734357	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734358	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734359	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734360	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734361	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734363	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734364	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734365	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734366	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734415	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734416	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1734419	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1734420	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1734421	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734422	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734423	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734424	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734425	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734428	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734429	0.86[ASN][1000 genomes]
rs1734430	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734431	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734432	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734434	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734438	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1734446	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734447	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734448	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1734449	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2046794	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357821	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357822	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357823	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2464818	0.86[ASN][1000 genomes]
rs2707816	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28451630	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28577596	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2884292	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2884293	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2884294	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2952626	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2969883	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2969884	0.81[ASN][1000 genomes]
rs4414652	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4630743	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4644994	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4669625	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4669627	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4669628	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4669629	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4669630	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4799	0.85[ASN][1000 genomes]
rs56346617	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57135939	0.82[ASN][1000 genomes]
rs57657112	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58188788	0.96[ASN][1000 genomes]
rs62129006	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62129024	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6432142	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432143	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6711048	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6722380	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6726687	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6736810	0.82[EUR][1000 genomes]
rs6737844	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs70953341	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10904200-10916400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:10904600-10916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:10905600-10918000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:10906200-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:10906200-10918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:10908000-10918200	Weak transcription	Pancreas	Pancrea
7	chr2:10908000-10918400	Weak transcription	Aorta	Aorta
8	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
9	chr2:10908800-10917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:10908800-10918200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:10910800-10917200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:10911400-10917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:10912200-10916200	Enhancers	Placenta	Placenta
14	chr2:10912200-10918200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:10912800-10917600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:10913000-10915800	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:10913000-10916000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:10913000-10916000	Enhancers	Fetal Muscle Leg	muscle
19	chr2:10913000-10916200	Enhancers	Fetal Intestine Large	intestine
20	chr2:10913200-10915600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:10913200-10917200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:10913200-10917800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:10913200-10918200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:10913200-10920200	Weak transcription	NH-A	brain
25	chr2:10913400-10917200	Weak transcription	Thymus	Thymus
26	chr2:10913400-10920200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:10913600-10917200	Weak transcription	NHLF	lung
28	chr2:10913600-10918400	Weak transcription	HSMM	muscle
29	chr2:10913600-10919800	Weak transcription	Osteobl	bone
30	chr2:10913800-10915600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:10913800-10915600	Enhancers	HMEC	breast
32	chr2:10913800-10915800	Enhancers	Fetal Lung	lung
33	chr2:10913800-10915800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:10913800-10916400	Enhancers	Fetal Heart	heart
35	chr2:10913800-10916600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:10913800-10917200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:10913800-10917200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:10914000-10915600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:10914000-10915600	Enhancers	NHEK	skin
40	chr2:10914000-10916600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:10914200-10915600	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:10914200-10915600	Enhancers	Left Ventricle	heart
43	chr2:10914200-10916000	Enhancers	Right Ventricle	heart
44	chr2:10914200-10917200	Enhancers	Esophagus	oesophagus
45	chr2:10914200-10920000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:10914400-10915600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:10914400-10915600	Enhancers	Right Atrium	heart
48	chr2:10914400-10916200	Weak transcription	Fetal Stomach	stomach
49	chr2:10914400-10917200	Weak transcription	Adipose Nuclei	Adipose
50	chr2:10914400-10918000	Weak transcription	Muscle Satellite Cultured Cells	--

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