Variant report

Variant	rs61858967
Chromosome Location	chr10:43914077-43914078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr10:43912354-43914835	K562	blood:	n/a	n/a
2	CCNT2	chr10:43913387-43914238	K562	blood:	n/a	n/a
3	POLR2A	chr10:43913802-43914369	HepG2	liver:	n/a	n/a
4	RUNX3	chr10:43913291-43914148	GM12878	blood:	n/a	n/a
5	MAX	chr10:43913377-43914137	K562	blood:	n/a	n/a
6	STAT5A	chr10:43913202-43914222	K562	blood:	n/a	n/a
7	E2F6	chr10:43913605-43914561	K562	blood:	n/a	n/a
8	GATA1	chr10:43913254-43914107	PBDE	blood:	n/a	n/a
9	ZMIZ1	chr10:43913328-43914227	K562	blood:	n/a	n/a
10	NR2F2	chr10:43912314-43914367	K562	blood:	n/a	n/a
11	RCOR1	chr10:43913308-43914091	K562	blood:	n/a	n/a
12	MYC	chr10:43913347-43914267	K562	blood:	n/a	n/a
13	NR2F2	chr10:43913255-43914173	K562	blood:	n/a	n/a
14	POLR2A	chr10:43913248-43914077	HL-60	blood:	n/a	n/a
15	MYBL2	chr10:43913367-43914101	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:43913285-43914095	HL-60	blood:	n/a	n/a
17	GATA1	chr10:43912345-43914597	K562	blood:	n/a	n/a
18	CEBPB	chr10:43912951-43914210	K562	blood:	n/a	n/a
19	TBL1XR1	chr10:43913282-43914429	K562	blood:	n/a	n/a
20	RCOR1	chr10:43913267-43914402	K562	blood:	n/a	n/a
21	SETDB1	chr10:43913545-43914093	U2OS	brain:	n/a	n/a
22	CREB1	chr10:43913212-43914128	K562	blood:	n/a	n/a
23	TRIM28	chr10:43913134-43914124	K562	blood:	n/a	n/a
24	TEAD4	chr10:43913179-43914361	K562	blood:	n/a	n/a
25	EP300	chr10:43912376-43914344	K562	blood:	n/a	n/a
26	CBX3	chr10:43913071-43914533	K562	blood:	n/a	n/a
27	MYC	chr10:43913340-43914411	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43913716..43915348-chr10:43917079..43919877,2	K562	blood:
2	chr10:43913475..43914992-chr10:43935210..43936976,2	K562	blood:
3	chr10:43913553..43915356-chr10:43929097..43931961,3	K562	blood:
4	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230555	TF binding region
ENSG00000221400	TF binding region
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11548184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813634	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11813872	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11814130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816311	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11817218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817841	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11818610	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11819010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354765	0.96[ASN][1000 genomes]
rs12569974	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12570067	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12570790	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12571047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571447	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571914	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12572226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12572292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34634785	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41306552	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41307500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659835	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57862979	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59770090	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60057912	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60274910	0.83[AMR][1000 genomes]
rs61113633	0.85[ASN][1000 genomes]
rs61858960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858962	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858989	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859048	0.83[EUR][1000 genomes]
rs61859049	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859050	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859051	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859054	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859055	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859056	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859058	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61859962	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859963	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859965	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859966	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859967	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859968	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859970	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860000	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860003	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860005	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860008	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860009	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860012	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61860013	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860014	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860882	1.00[AFR][1000 genomes]
rs61860883	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61860885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43905800-43915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:43905800-43915600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:43906000-43915800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:43906200-43915200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:43906400-43915600	Weak transcription	Hela-S3	cervix
6	chr10:43907600-43915600	Weak transcription	NHEK	skin
7	chr10:43911600-43914600	Enhancers	Primary B cells from cord blood	blood
8	chr10:43911600-43914600	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:43911600-43915200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:43911800-43915600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:43912000-43915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:43912400-43914200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr10:43912400-43914600	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:43912400-43915600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr10:43912600-43914400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr10:43912600-43915400	Enhancers	Primary T cells from cord blood	blood
17	chr10:43912600-43915400	Enhancers	Dnd41	blood
18	chr10:43912600-43915600	Enhancers	Fetal Thymus	thymus
19	chr10:43912800-43914800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr10:43912800-43915400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr10:43912800-43915600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr10:43912800-43915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr10:43912800-43915600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr10:43913000-43914600	Enhancers	Duodenum Mucosa	Duodenum
25	chr10:43913000-43915400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr10:43913000-43915600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:43913000-43915600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:43913200-43915600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:43913200-43915800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:43913400-43914200	Enhancers	Fetal Intestine Small	intestine
31	chr10:43913400-43914200	Flanking Active TSS	GM12878-XiMat	blood
32	chr10:43913400-43914200	Enhancers	HUVEC	blood vessel
33	chr10:43913400-43914600	Enhancers	Thymus	Thymus
34	chr10:43913400-43915200	Weak transcription	Placenta	Placenta
35	chr10:43913400-43915600	Enhancers	HepG2	liver
36	chr10:43913600-43914200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:43913600-43914200	Enhancers	Fetal Heart	heart
38	chr10:43913600-43914400	Enhancers	Esophagus	oesophagus
39	chr10:43913600-43914800	Enhancers	Spleen	Spleen
40	chr10:43913800-43914200	Flanking Active TSS	K562	blood
41	chr10:43913800-43914400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:43913800-43914400	Enhancers	Stomach Mucosa	stomach
43	chr10:43913800-43915200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:43913800-43915200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:43913800-43915200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:43913800-43915200	Weak transcription	Fetal Intestine Large	intestine
47	chr10:43913800-43915200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:43913800-43915400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr10:43913800-43915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:43913800-43915800	Weak transcription	A549	lung

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