Variant report

Variant	rs17470762
Chromosome Location	chr1:97543632-97543633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12057641	0.82[EUR][1000 genomes]
rs1599778	1.00[AFR][1000 genomes]
rs17116458	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs56822709	0.92[EUR][1000 genomes]
rs6667364	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs6668057	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6680642	1.00[CEU][hapmap]
rs72963859	0.91[EUR][1000 genomes]
rs72965835	1.00[EUR][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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97536200-97544800	Weak transcription	Fetal Lung	lung
2	chr1:97537000-97549200	Weak transcription	NHLF	lung
3	chr1:97537200-97547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:97537400-97559400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:97538000-97603600	Weak transcription	Psoas Muscle	Psoas
6	chr1:97538400-97550000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:97538600-97554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:97538600-97557400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:97538600-97561800	Weak transcription	Right Ventricle	heart
10	chr1:97538600-97562200	Weak transcription	Left Ventricle	heart
11	chr1:97538600-97562200	Weak transcription	Lung	lung
12	chr1:97538800-97544400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:97539600-97544400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:97539600-97544400	Weak transcription	Adipose Nuclei	Adipose
15	chr1:97539600-97548800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:97539600-97559400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:97539600-97565000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:97539800-97545000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:97539800-97545400	Strong transcription	Liver	Liver
20	chr1:97539800-97547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:97540000-97544000	Strong transcription	Primary T cells from cord blood	blood
22	chr1:97540000-97546000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:97540000-97566800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:97540400-97575200	Weak transcription	Ovary	ovary
25	chr1:97540600-97544400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:97541400-97543800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:97542000-97547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:97542200-97562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:97542400-97547400	Weak transcription	HSMM	muscle
30	chr1:97542400-97553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:97542400-97584800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:97542600-97560000	Weak transcription	Dnd41	blood
33	chr1:97542800-97562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:97543000-97562600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:97543200-97547200	Weak transcription	HMEC	breast
36	chr1:97543200-97547200	Weak transcription	NHEK	skin
37	chr1:97543400-97547400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:97543600-97547200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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