Variant report

Variant	rs1991103
Chromosome Location	chr2:31304695-31304696
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10175305	0.95[EUR][1000 genomes]
rs10188244	0.89[EUR][1000 genomes]
rs10189705	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10196495	0.82[EUR][1000 genomes]
rs10205657	0.90[EUR][1000 genomes]
rs1075688	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075689	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11124239	0.91[EUR][1000 genomes]
rs11124240	0.94[EUR][1000 genomes]
rs11674713	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11686425	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11692265	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11888670	0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs12712310	0.86[TSI][hapmap];0.93[EUR][1000 genomes]
rs12712311	0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs12996218	0.82[TSI][hapmap];0.91[EUR][1000 genomes]
rs13003016	0.91[EUR][1000 genomes]
rs13021484	0.81[CHD][hapmap]
rs13029054	0.91[EUR][1000 genomes]
rs1862975	0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs1862977	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1862978	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1862979	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862981	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1991104	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	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2161832	0.91[EUR][1000 genomes]
rs2161833	0.91[EUR][1000 genomes]
rs2194467	0.95[EUR][1000 genomes]
rs2194468	0.95[EUR][1000 genomes]
rs2194469	0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs2365192	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2365196	0.91[EUR][1000 genomes]
rs2365197	0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs2365199	0.87[EUR][1000 genomes]
rs2365200	0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs2365201	0.94[EUR][1000 genomes]
rs2365205	0.90[EUR][1000 genomes]
rs2365206	0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs35285211	0.91[EUR][1000 genomes]
rs4951965	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543598	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543599	0.85[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543600	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6543602	0.82[EUR][1000 genomes]
rs6709814	0.95[EUR][1000 genomes]
rs6713789	0.91[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6718085	0.90[EUR][1000 genomes]
rs6718097	0.91[EUR][1000 genomes]
rs6722828	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729079	0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs6732067	0.93[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743541	0.88[EUR][1000 genomes]
rs6753457	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6760532	0.94[EUR][1000 genomes]
rs6760971	0.94[EUR][1000 genomes]
rs7565689	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7570822	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7583033	0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs7583218	0.91[EUR][1000 genomes]
rs7600547	0.91[EUR][1000 genomes]
rs9973425	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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:25 , 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	chr2:31301200-31304800	Weak transcription	Fetal Lung	lung
8	chr2:31301200-31306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:31301800-31307200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:31301800-31307400	Weak transcription	Fetal Brain Female	brain
11	chr2:31302000-31304800	Weak transcription	HMEC	breast
12	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:31303000-31304800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:31303000-31304800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:31303000-31307400	Weak transcription	Esophagus	oesophagus
17	chr2:31303800-31305000	Enhancers	NHDF-Ad	bronchial
18	chr2:31304000-31305200	Enhancers	Fetal Heart	heart
19	chr2:31304000-31309200	Enhancers	Fetal Intestine Small	intestine
20	chr2:31304400-31305000	Flanking Active TSS	A549	lung
21	chr2:31304600-31305400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:31304600-31305400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:31304600-31305400	Enhancers	NHEK	skin
24	chr2:31304600-31305800	Enhancers	Fetal Kidney	kidney
25	chr2:31304600-31309800	Enhancers	Fetal Intestine Large	intestine

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