Variant report

Variant	rs12571906
Chromosome Location	chr10:43902508-43902509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43901067..43903154-chr19:16299161..16302163,3	K562	blood:
2	chr10:43901588..43903154-chr19:16299184..16302181,3	K562	blood:
3	chr10:43867647..43875264-chr10:43900659..43906151,11	MCF-7	breast:
4	chr10:43902497..43903181-chr12:125395151..125396047,2	Hela-S3	cervix:
5	chr10:43901751..43904156-chr7:26239345..26241405,2	K562	blood:
6	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:
7	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
8	chr10:43899870..43905980-chr10:43953401..43957689,7	MCF-7	breast:
9	chr10:43892832..43893757-chr10:43901832..43902783,2	MCF-7	breast:
10	chr10:43901770..43904893-chr10:44100789..44103373,5	MCF-7	breast:
11	chr10:43696064..43699246-chr10:43901638..43904576,3	K562	blood:
12	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
13	chr10:43901586..43902527-chr17:33905336..33905850,2	Hela-S3	cervix:
14	chr10:43696835..43700131-chr10:43902185..43905182,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198298	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000267033	Chromatin interaction
ENSG00000108733	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000198915	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000150201	Chromatin interaction
ENSG00000232004	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11548184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813634	1.00[AMR][1000 genomes]
rs11813872	1.00[AMR][1000 genomes]
rs11814130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11816311	1.00[AMR][1000 genomes]
rs11817218	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11817723	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817841	1.00[AMR][1000 genomes]
rs11818610	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11819010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354765	0.89[ASN][1000 genomes]
rs12569974	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12570067	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12570790	1.00[AMR][1000 genomes]
rs12571047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571447	0.94[EUR][1000 genomes]
rs12571914	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12572226	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12572292	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34634785	1.00[AMR][1000 genomes]
rs41306552	1.00[AMR][1000 genomes]
rs41307500	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55659835	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57862979	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59770090	1.00[AMR][1000 genomes]
rs60057912	1.00[AMR][1000 genomes]
rs60274910	0.83[AMR][1000 genomes]
rs61858960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858962	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61858967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858989	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858997	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858998	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858999	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859005	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859006	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859048	0.83[EUR][1000 genomes]
rs61859049	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859050	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859051	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859054	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859055	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859056	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61859058	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61859962	1.00[AMR][1000 genomes]
rs61859963	1.00[AMR][1000 genomes]
rs61859965	1.00[AMR][1000 genomes]
rs61859966	1.00[AMR][1000 genomes]
rs61859967	1.00[AMR][1000 genomes]
rs61859968	1.00[AMR][1000 genomes]
rs61859970	1.00[AMR][1000 genomes]
rs61860000	1.00[AMR][1000 genomes]
rs61860003	1.00[AMR][1000 genomes]
rs61860005	0.83[AMR][1000 genomes]
rs61860008	1.00[AMR][1000 genomes]
rs61860009	1.00[AMR][1000 genomes]
rs61860012	1.00[AMR][1000 genomes]
rs61860013	1.00[AMR][1000 genomes]
rs61860014	1.00[AMR][1000 genomes]
rs61860883	0.85[EUR][1000 genomes]
rs61860885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43899400-43902600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr10:43900000-43902600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:43900200-43904600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:43900800-43905600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:43901000-43903400	Enhancers	Fetal Heart	heart
6	chr10:43901000-43905800	Active TSS	HSMM	muscle
7	chr10:43901200-43904000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr10:43901200-43904400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr10:43901200-43905200	Active TSS	Small Intestine	intestine
10	chr10:43901200-43905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:43901400-43903200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:43901400-43905000	Active TSS	HMEC	breast
13	chr10:43901400-43905200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:43901400-43905400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr10:43901400-43905400	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr10:43901400-43905400	Active TSS	Ovary	ovary
17	chr10:43901400-43905600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:43901400-43905800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr10:43901600-43902600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr10:43901600-43903000	Active TSS	HepG2	liver
21	chr10:43901600-43903400	Active TSS	Fetal Brain Female	brain
22	chr10:43901600-43905400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr10:43901600-43905400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:43901600-43905400	Active TSS	Gastric	stomach
25	chr10:43901600-43905600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:43901600-43905600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr10:43901600-43905600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr10:43901600-43905600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr10:43901600-43905600	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr10:43901600-43905600	Active TSS	Right Atrium	heart
31	chr10:43901600-43905600	Active TSS	GM12878-XiMat	blood
32	chr10:43901600-43905600	Active TSS	HSMMtube	muscle
33	chr10:43901600-43905600	Active TSS	NHDF-Ad	bronchial
34	chr10:43901600-43905600	Active TSS	NHLF	lung
35	chr10:43901600-43905800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr10:43901600-43905800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr10:43901600-43906000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:43901800-43902800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:43901800-43903400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:43901800-43903400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:43901800-43903400	Active TSS	Right Ventricle	heart
42	chr10:43901800-43905000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:43901800-43905000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:43901800-43905000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr10:43901800-43905000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:43901800-43905200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:43901800-43905400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:43901800-43905400	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr10:43901800-43905400	Active TSS	Liver	Liver
50	chr10:43901800-43905400	Active TSS	Esophagus	oesophagus

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