Variant report

Variant	rs1991104
Chromosome Location	chr2:31302713-31302714
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	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166079	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175305	0.81[CEU][hapmap];0.93[EUR][1000 genomes]
rs10188244	0.92[CEU][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs10189705	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10196495	0.84[EUR][1000 genomes]
rs10205657	0.93[EUR][1000 genomes]
rs1075688	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1075689	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11124239	0.88[EUR][1000 genomes]
rs11124240	0.93[EUR][1000 genomes]
rs11674713	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11686425	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11692265	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11888670	0.92[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs12712310	0.92[CEU][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs12712311	0.92[CEU][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs12996218	0.81[CEU][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs13003016	0.88[EUR][1000 genomes]
rs13029054	0.90[EUR][1000 genomes]
rs1862975	0.92[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs1862977	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862978	0.85[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862979	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862981	0.84[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1991103	0.85[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2098787	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2161832	0.90[EUR][1000 genomes]
rs2161833	0.90[EUR][1000 genomes]
rs2194467	0.81[CEU][hapmap];0.93[EUR][1000 genomes]
rs2194468	0.93[EUR][1000 genomes]
rs2194469	0.81[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs2365192	0.83[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365196	0.88[EUR][1000 genomes]
rs2365197	0.92[CEU][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2365199	0.89[EUR][1000 genomes]
rs2365200	0.92[CEU][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2365201	0.81[CEU][hapmap];0.92[EUR][1000 genomes]
rs2365205	0.88[EUR][1000 genomes]
rs2365206	0.92[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs35285211	0.93[EUR][1000 genomes]
rs4951965	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543598	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543599	0.81[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6543600	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6543601	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs6543602	0.81[EUR][1000 genomes]
rs6709814	0.93[EUR][1000 genomes]
rs6713789	0.92[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6718085	0.88[EUR][1000 genomes]
rs6718097	0.88[EUR][1000 genomes]
rs6722828	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729079	0.81[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs6732067	0.92[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743541	0.86[EUR][1000 genomes]
rs6753457	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6760532	0.93[EUR][1000 genomes]
rs6760971	0.93[EUR][1000 genomes]
rs7565689	0.92[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7570822	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7583033	0.81[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs7583218	0.90[EUR][1000 genomes]
rs7600547	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs9973425	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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	nsv961714	chr2:31298724-31305343	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
4	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
5	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:31299400-31304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:31300600-31302800	Weak transcription	Esophagus	oesophagus
9	chr2:31300800-31304000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:31301000-31303800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:31301000-31304600	Weak transcription	Fetal Kidney	kidney
12	chr2:31301200-31304800	Weak transcription	Fetal Lung	lung
13	chr2:31301200-31306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:31301400-31303000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:31301600-31304400	Enhancers	A549	lung
16	chr2:31301800-31303600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:31301800-31303800	Weak transcription	NHDF-Ad	bronchial
18	chr2:31301800-31307200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:31301800-31307400	Weak transcription	Fetal Brain Female	brain
20	chr2:31302000-31304600	Weak transcription	NHEK	skin
21	chr2:31302000-31304800	Weak transcription	HMEC	breast
22	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:31302200-31303000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:31302200-31304600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:31302400-31302800	Bivalent/Poised TSS	HepG2	liver
26	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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