Variant report

Variant	rs12571914
Chromosome Location	chr10:43956653-43956654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43889454..43895016-chr10:43953657..43957344,5	MCF-7	breast:
2	chr10:43899870..43905980-chr10:43953401..43957689,7	MCF-7	breast:
3	chr10:43902834..43905177-chr10:43955557..43957736,3	MCF-7	breast:
4	chr10:43901766..43904135-chr10:43956067..43959017,3	K562	blood:
5	chr10:43890727..43894118-chr10:43955910..43958859,5	K562	blood:

Variant related genes	Relation type
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11548184	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11813634	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813872	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11814130	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11816311	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817218	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11817723	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11817841	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11818610	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11819010	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12354765	0.88[ASN][1000 genomes]
rs12569974	0.88[ASN][1000 genomes]
rs12570067	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12570790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571047	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12571447	0.92[ASN][1000 genomes]
rs12571906	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12572226	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12572292	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34634785	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41306552	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41307500	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55659835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305563	0.90[AFR][1000 genomes]
rs57050417	0.90[AFR][1000 genomes]
rs57862979	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58052353	0.90[AFR][1000 genomes]
rs59615405	0.90[AFR][1000 genomes]
rs59737279	0.81[AFR][1000 genomes]
rs59770090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59946114	0.90[AFR][1000 genomes]
rs60057912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60274910	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61113633	0.92[ASN][1000 genomes]
rs61858960	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858962	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858963	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858964	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858965	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61858967	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858989	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858997	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858998	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61858999	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61859005	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61859006	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61859048	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61859049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859050	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859051	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859052	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61859054	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859055	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859056	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859962	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859963	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859965	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859966	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859970	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860000	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860003	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860005	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860008	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860009	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860012	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61860013	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860014	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860885	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860886	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860887	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860890	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74137733	0.90[AFR][1000 genomes]
rs74137734	0.90[AFR][1000 genomes]
rs74137735	0.90[AFR][1000 genomes]
rs74137736	0.90[AFR][1000 genomes]
rs74137737	0.81[AFR][1000 genomes]
rs74137738	0.90[AFR][1000 genomes]
rs74137739	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43951800-43957400	Weak transcription	Fetal Kidney	kidney
2	chr10:43952000-43957000	Weak transcription	K562	blood
3	chr10:43952000-43957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:43952000-43957600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:43952000-43957600	Weak transcription	Brain Anterior Caudate	brain
6	chr10:43952000-43957600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:43952000-43957600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:43952000-43957600	Weak transcription	Hela-S3	cervix
9	chr10:43952000-43960000	Weak transcription	Left Ventricle	heart
10	chr10:43952000-43972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:43952000-43973200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:43952000-43977200	Weak transcription	HSMMtube	muscle
13	chr10:43952200-43956800	Weak transcription	NHEK	skin
14	chr10:43952200-43957000	Weak transcription	Spleen	Spleen
15	chr10:43952200-43957200	Weak transcription	Fetal Intestine Small	intestine
16	chr10:43952200-43957400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:43952200-43957400	Weak transcription	Brain Hippocampus Middle	brain
18	chr10:43952200-43957600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:43952200-43957600	Weak transcription	Adipose Nuclei	Adipose
20	chr10:43952200-43957600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr10:43952200-43957600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:43952200-43961600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:43952200-43967800	Weak transcription	Right Atrium	heart
24	chr10:43952200-43975200	Weak transcription	Fetal Stomach	stomach
25	chr10:43952400-43956800	Weak transcription	HepG2	liver
26	chr10:43952400-43957200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:43952400-43976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:43952600-43957200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr10:43952600-43957200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:43952600-43957200	Weak transcription	Dnd41	blood
31	chr10:43952600-43957800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:43952600-43967400	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:43952800-43957200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr10:43952800-43957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr10:43952800-43957200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:43952800-43957400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr10:43952800-43957400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr10:43952800-43957600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:43952800-43957600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr10:43952800-43957600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:43953000-43957400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:43954400-43957400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:43954400-43957400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:43954400-43960400	Weak transcription	Primary T cells from cord blood	blood
45	chr10:43954600-43957600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:43954800-43959200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr10:43956200-43957200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:43956400-43957800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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