Variant report

Variant	rs12673071
Chromosome Location	chr7:50194041-50194042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10228836	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235301	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10241289	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10250629	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260654	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267578	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11185600	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971651	0.89[CHB][hapmap]
rs11980886	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672941	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12718245	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12718246	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229373	0.89[CHB][hapmap]
rs13239674	0.83[CHB][hapmap]
rs13239786	0.89[CHB][hapmap]
rs13241637	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247946	0.87[CHB][hapmap]
rs1384634	0.82[CHB][hapmap]
rs1396280	0.89[CHB][hapmap]
rs1456906	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601033	0.89[CHB][hapmap]
rs17133694	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17133709	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870030	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982535	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220065	0.89[CHB][hapmap]
rs28508243	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap]
rs34733935	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984574	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35254219	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35570047	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36129824	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778764	0.89[CHB][hapmap]
rs3891340	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4092362	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496918	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583408	0.89[CHB][hapmap]
rs6583409	0.89[CHB][hapmap]
rs6943189	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944097	0.89[CHB][hapmap]
rs6968612	0.89[CHB][hapmap]
rs7797137	0.89[CHB][hapmap]
rs7798067	0.89[CHB][hapmap]
rs7800478	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805656	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998928	0.95[EUR][1000 genomes];0.95[ASN][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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50186600-50195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:50189200-50195200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:50189200-50195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:50189200-50203400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:50189600-50195200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:50189600-50195400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:50189600-50195400	Weak transcription	Dnd41	blood
8	chr7:50189800-50195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:50189800-50195400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:50190000-50195200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:50190200-50195200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:50190800-50195200	Weak transcription	Primary T cells from cord blood	blood
13	chr7:50192000-50194400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:50193200-50195200	Weak transcription	Thymus	Thymus
15	chr7:50193200-50195400	Weak transcription	Primary B cells from cord blood	blood
16	chr7:50193400-50195000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:50193400-50195200	Weak transcription	Fetal Thymus	thymus
18	chr7:50193400-50195400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:50193600-50195000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:50193600-50195400	Weak transcription	GM12878-XiMat	blood
21	chr7:50194000-50195200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:50194000-50195200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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