Variant report

Variant	rs955992
Chromosome Location	chr7:102630576-102630577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102629638..102632111-chr7:102696219..102697817,2	K562	blood:
2	chr7:102630195..102631725-chr7:102699498..102701582,2	K562	blood:
3	chr7:102628465..102631626-chr7:102631792..102634551,3	MCF-7	breast:
4	chr7:102629921..102632610-chr7:102634773..102637196,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10250490	0.82[ASN][1000 genomes]
rs10273725	0.84[CEU][hapmap]
rs10499952	0.92[CEU][hapmap]
rs10808120	0.86[ASN][1000 genomes]
rs1100046	0.85[ASN][1000 genomes]
rs11514917	0.92[ASN][1000 genomes]
rs11768949	0.84[ASN][1000 genomes]
rs11972261	0.91[ASN][1000 genomes]
rs11976237	0.94[ASN][1000 genomes]
rs11978670	0.84[CEU][hapmap]
rs11978799	0.84[CEU][hapmap]
rs12056296	0.86[CEU][hapmap]
rs12537821	0.85[AFR][1000 genomes]
rs12537977	0.82[ASN][1000 genomes]
rs12666317	0.84[ASN][1000 genomes]
rs13221585	0.86[ASN][1000 genomes]
rs13222980	0.84[ASN][1000 genomes]
rs13233521	0.89[ASN][1000 genomes]
rs13242493	0.92[CEU][hapmap];0.86[ASN][1000 genomes]
rs1608651	0.97[ASN][1000 genomes]
rs1829957	0.85[ASN][1000 genomes]
rs2009503	0.92[CEU][hapmap]
rs2159022	0.84[CEU][hapmap]
rs2222539	0.86[ASN][1000 genomes]
rs2228686	0.90[ASN][1000 genomes]
rs2298854	0.81[ASN][1000 genomes]
rs2411059	0.87[ASN][1000 genomes]
rs28856331	0.83[ASN][1000 genomes]
rs34053568	0.83[AFR][1000 genomes]
rs41501847	0.83[CEU][hapmap]
rs4296965	0.87[ASN][1000 genomes]
rs4609128	0.89[ASN][1000 genomes]
rs4620204	0.89[ASN][1000 genomes]
rs4729860	0.98[ASN][1000 genomes]
rs4729866	0.84[ASN][1000 genomes]
rs58939176	0.81[AFR][1000 genomes]
rs61030867	0.90[AFR][1000 genomes]
rs6465877	0.84[CEU][hapmap]
rs6465879	0.84[CEU][hapmap]
rs6465882	0.92[CEU][hapmap]
rs6465885	0.85[CEU][hapmap]
rs6942855	0.84[CEU][hapmap]
rs6945997	0.89[ASN][1000 genomes]
rs6947403	0.92[CEU][hapmap];0.84[ASN][1000 genomes]
rs6953980	0.84[CEU][hapmap]
rs6956781	0.84[CEU][hapmap]
rs6957434	0.84[CEU][hapmap]
rs6960428	0.88[ASN][1000 genomes]
rs6968713	0.92[CEU][hapmap]
rs6975451	0.84[CEU][hapmap]
rs7458786	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7780405	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7789252	0.97[ASN][1000 genomes]
rs7807055	0.89[ASN][1000 genomes]
rs847647	0.92[CEU][hapmap]
rs847648	0.84[ASN][1000 genomes]
rs847649	0.84[ASN][1000 genomes]
rs847652	0.92[CEU][hapmap]
rs847656	0.92[CEU][hapmap];0.82[ASN][1000 genomes]
rs847658	0.92[CEU][hapmap];0.80[ASN][1000 genomes]
rs869332	0.99[ASN][1000 genomes]
rs952879	0.82[ASN][1000 genomes]
rs9718453	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:102623800-102636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:102625800-102632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102626200-102630600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:102626200-102631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:102626400-102631000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:102626400-102631000	Weak transcription	NHDF-Ad	bronchial
8	chr7:102626400-102631000	Weak transcription	NHEK	skin
9	chr7:102626400-102631200	Weak transcription	NH-A	brain
10	chr7:102626400-102631600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:102626600-102630600	Weak transcription	HMEC	breast
12	chr7:102627800-102631800	Genic enhancers	K562	blood
13	chr7:102628200-102631600	Enhancers	Ovary	ovary
14	chr7:102628400-102631200	Enhancers	Hela-S3	cervix
15	chr7:102629000-102631200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:102629000-102634200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:102629000-102634400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:102629400-102630600	Bivalent Enhancer	HepG2	liver
19	chr7:102629400-102631600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:102629400-102631800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr7:102629400-102632000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:102629400-102633400	Enhancers	Pancreas	Pancrea
23	chr7:102629400-102633600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:102629600-102632600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr7:102629800-102631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:102630000-102631000	Weak transcription	A549	lung
27	chr7:102630000-102631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:102630000-102631400	Enhancers	Right Atrium	heart
29	chr7:102630200-102631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:102630200-102631200	Weak transcription	Stomach Mucosa	stomach
31	chr7:102630200-102631200	Weak transcription	Spleen	Spleen
32	chr7:102630200-102632400	Weak transcription	Left Ventricle	heart
33	chr7:102630200-102632600	Weak transcription	Aorta	Aorta
34	chr7:102630200-102632600	Weak transcription	Gastric	stomach
35	chr7:102630400-102630800	Enhancers	Primary B cells from cord blood	blood
36	chr7:102630400-102631600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:102630400-102633600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:102630400-102634600	Enhancers	Osteobl	bone
39	chr7:102630400-102635400	Enhancers	HUVEC	blood vessel

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