Variant report

Variant	rs837065
Chromosome Location	chr8:130853447-130853448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130852434..130855409-chr8:130857919..130860602,3	K562	blood:
2	chr8:130852731..130855092-chr8:130855258..130857778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10956502	0.87[CHB][hapmap]
rs11984804	0.81[ASN][1000 genomes]
rs167238	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs167239	0.87[ASN][1000 genomes]
rs16904166	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs1979477	0.90[ASN][1000 genomes]
rs2046260	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2054632	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs212992	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2306528	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs2449415	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2449417	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2663613	0.89[CEU][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663618	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2663619	0.84[ASN][1000 genomes]
rs298601	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs298602	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs298604	0.85[CEU][hapmap];0.83[ASN][1000 genomes]
rs298605	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs298606	0.83[ASN][1000 genomes]
rs298607	0.85[CEU][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs298609	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs298610	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs298611	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs298612	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs298613	0.93[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs298614	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs298615	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs298616	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs298617	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298618	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs298619	0.85[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs298620	0.82[ASN][1000 genomes]
rs2989885	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34983967	0.87[ASN][1000 genomes]
rs367117	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs383209	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs384752	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs385022	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs389604	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs401526	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs412941	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs423915	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs438877	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4395866	0.81[ASN][1000 genomes]
rs476849	0.83[ASN][1000 genomes]
rs59839253	0.82[ASN][1000 genomes]
rs710616	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs710617	0.81[ASN][1000 genomes]
rs837075	0.83[ASN][1000 genomes]
rs837079	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs837080	0.85[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs837081	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs857233	0.81[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839000-130860200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
3	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:130846600-130854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:130847600-130855200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:130847800-130854200	Weak transcription	K562	blood
9	chr8:130847800-130855600	Weak transcription	Pancreas	Pancrea
10	chr8:130847800-130863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:130848400-130854600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:130849200-130853600	Weak transcription	HepG2	liver
13	chr8:130850000-130861200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:130850200-130860800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:130850200-130862200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:130850200-130863600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:130850200-130864200	Weak transcription	Small Intestine	intestine
18	chr8:130850600-130855200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:130850600-130855400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:130850800-130854600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:130851200-130855200	Weak transcription	Dnd41	blood
24	chr8:130851200-130855600	Weak transcription	Gastric	stomach
25	chr8:130851200-130855600	Weak transcription	Right Atrium	heart
26	chr8:130851200-130856200	Strong transcription	Primary T cells from cord blood	blood
27	chr8:130851200-130878600	Weak transcription	Ovary	ovary
28	chr8:130851400-130859600	Strong transcription	A549	lung
29	chr8:130851400-130868000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:130851600-130854200	Weak transcription	HSMMtube	muscle
31	chr8:130851600-130860600	Weak transcription	Fetal Stomach	stomach
32	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:130851800-130855600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:130851800-130859400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:130851800-130860800	Weak transcription	NHDF-Ad	bronchial
36	chr8:130851800-130861800	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:130852000-130855400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:130852000-130856600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:130852000-130856800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:130852000-130857800	Strong transcription	NHEK	skin
42	chr8:130852000-130860800	Weak transcription	Osteobl	bone
43	chr8:130852000-130867200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:130852000-130868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:130852000-130875200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
47	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:130852200-130854000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:130852200-130854400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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