Variant report

Variant	rs61858962
Chromosome Location	chr10:43901349-43901350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43901067..43903154-chr19:16299161..16302163,3	K562	blood:
2	chr10:43867647..43875264-chr10:43900659..43906151,11	MCF-7	breast:
3	chr10:43899870..43905980-chr10:43953401..43957689,7	MCF-7	breast:
4	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

Variant related genes	Relation type
ENSG00000267033	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000150201	Chromatin interaction
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11548184	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813634	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11813872	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11814130	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816311	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11817218	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817723	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817841	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11818610	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11819010	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354765	0.96[ASN][1000 genomes]
rs12569974	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12570067	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12570790	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12571047	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571447	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571906	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571914	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12572226	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12572292	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34634785	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41306552	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41307500	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659835	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57862979	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59770090	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60057912	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61113633	0.85[ASN][1000 genomes]
rs61858960	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858963	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858964	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858965	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858966	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858967	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858989	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858996	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858997	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858998	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858999	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859003	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859005	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859006	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859048	0.81[EUR][1000 genomes]
rs61859049	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859050	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859051	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859054	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859055	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859056	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859058	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61859962	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859963	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859965	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859966	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859967	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859968	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859970	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860000	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860003	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860005	0.84[ASN][1000 genomes]
rs61860008	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860009	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860012	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61860013	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860014	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860882	1.00[AFR][1000 genomes]
rs61860883	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61860885	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860886	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860887	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860890	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	chr10:43893200-43901600	Weak transcription	HSMMtube	muscle
2	chr10:43893400-43901400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:43893600-43902200	Weak transcription	Aorta	Aorta
4	chr10:43894000-43901400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:43894200-43901400	Weak transcription	Fetal Brain Male	brain
6	chr10:43894400-43901600	Weak transcription	Brain Germinal Matrix	brain
7	chr10:43894800-43901400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:43894800-43901600	Weak transcription	Fetal Brain Female	brain
9	chr10:43895200-43901600	Weak transcription	Fetal Kidney	kidney
10	chr10:43896800-43901400	Enhancers	Stomach Mucosa	stomach
11	chr10:43897000-43901400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr10:43897000-43902400	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr10:43897400-43901400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr10:43897400-43901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:43898000-43901400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr10:43898600-43901400	Enhancers	Placenta	Placenta
17	chr10:43898800-43901400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:43899200-43901400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr10:43899200-43901400	Enhancers	Adipose Nuclei	Adipose
20	chr10:43899200-43902000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr10:43899400-43901400	Enhancers	Ovary	ovary
22	chr10:43899400-43901600	Enhancers	Gastric	stomach
23	chr10:43899400-43902600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr10:43899800-43901400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:43899800-43901400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr10:43899800-43901800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:43900000-43901400	Active TSS	GM12878-XiMat	blood
28	chr10:43900000-43902600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:43900200-43901400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:43900200-43904600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:43900400-43901400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr10:43900400-43901400	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:43900400-43901600	Enhancers	Primary B cells from peripheral blood	blood
34	chr10:43900400-43901600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr10:43900800-43901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:43900800-43901600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr10:43900800-43901800	Enhancers	Fetal Muscle Trunk	muscle
38	chr10:43900800-43902000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr10:43900800-43902200	Flanking Active TSS	Thymus	Thymus
40	chr10:43900800-43902400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr10:43900800-43905600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:43901000-43901600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
43	chr10:43901000-43901600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr10:43901000-43901600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr10:43901000-43901600	Enhancers	Fetal Lung	lung
46	chr10:43901000-43901600	Genic enhancers	Fetal Muscle Leg	muscle
47	chr10:43901000-43901800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:43901000-43901800	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr10:43901000-43901800	Enhancers	Left Ventricle	heart
50	chr10:43901000-43901800	Transcr. at gene 5' and 3'	NHEK	skin

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