Variant report

Variant	rs2119857
Chromosome Location	chr1:194021336-194021337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10494694	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10494695	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11576452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12402555	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12407160	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12739496	0.94[ASN][1000 genomes]
rs17550167	1.00[AMR][1000 genomes]
rs17550564	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17615197	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17615410	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17615584	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17615608	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17615887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34886976	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs569994	0.90[ASN][1000 genomes]
rs57802972	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs648371	0.90[ASN][1000 genomes]
rs74131275	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74131276	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74131280	0.84[AFR][1000 genomes]
rs74131282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131285	0.84[AFR][1000 genomes]
rs74131287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74131289	0.84[AFR][1000 genomes]
rs74131290	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74131293	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74131294	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74132716	0.84[AFR][1000 genomes]
rs7511906	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553119	0.92[ASN][1000 genomes]
rs7553854	0.97[AMR][1000 genomes]
rs958436	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194020200-194021600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:194020400-194030800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:194020600-194021800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:194020800-194021400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:194020800-194021400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:194020800-194021400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:194020800-194021600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:194020800-194030800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:194021000-194021800	Enhancers	Primary T cells from cord blood	blood
10	chr1:194021000-194022400	Enhancers	Thymus	Thymus
11	chr1:194021000-194023600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:194021200-194021600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:194021200-194022400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:194021200-194022400	Enhancers	Fetal Thymus	thymus
15	chr1:194021200-194024800	Weak transcription	Small Intestine	intestine
16	chr1:194021200-194027600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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