Variant report

Variant	rs2050523
Chromosome Location	chr1:160471844-160471845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10797069	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10797072	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10797076	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs10797077	0.88[CHB][hapmap]
rs10797078	0.83[EUR][1000 genomes]
rs11265432	0.81[ASN][1000 genomes]
rs11265433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs11265436	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11265438	0.83[EUR][1000 genomes]
rs1149381	0.83[EUR][1000 genomes]
rs1324734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1466933	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1503856	0.83[EUR][1000 genomes]
rs1503859	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[EUR][1000 genomes]
rs1503860	0.89[CHB][hapmap]
rs1553458	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1590450	0.83[EUR][1000 genomes]
rs2134705	0.83[EUR][1000 genomes]
rs2369723	0.83[EUR][1000 genomes]
rs2438181	0.81[EUR][1000 genomes]
rs349250	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs349251	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3845627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3898642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3903887	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3903888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3904694	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4145896	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4268352	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6413899	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6427523	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6427525	0.81[ASN][1000 genomes]
rs6427528	0.89[CHB][hapmap]
rs6427530	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6659814	0.83[EUR][1000 genomes]
rs6662885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs6668881	0.83[EUR][1000 genomes]
rs6680709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6680920	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6689237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6691593	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6696595	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6700440	0.86[CHB][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6700764	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs724985	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7413789	0.83[EUR][1000 genomes]
rs7519809	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7519913	0.81[EUR][1000 genomes]
rs7535796	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7543788	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7555581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr1:160461200-160472600	Weak transcription	Thymus	Thymus
2	chr1:160466200-160473000	Weak transcription	Fetal Thymus	thymus
3	chr1:160466200-160474200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:160468000-160477000	ZNF genes & repeats	GM12878-XiMat	blood
5	chr1:160468800-160473000	Strong transcription	Primary T cells from cord blood	blood
6	chr1:160469200-160472600	Strong transcription	Primary B cells from cord blood	blood
7	chr1:160469800-160472400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:160470200-160472600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:160470600-160472400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:160470800-160475400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:160471200-160472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:160471200-160473000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:160471200-160475200	Weak transcription	Placenta	Placenta
14	chr1:160471400-160472600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:160471400-160474600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:160471600-160474200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:160471600-160474600	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr1:160471600-160474600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:160471800-160472400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:160471800-160472400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:160471800-160473800	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr1:160471800-160474600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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