Variant report

Variant	rs349250
Chromosome Location	chr1:160556144-160556145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160555941..160557860-chr1:160560881..160563752,2	K562	blood:
2	chr1:160555941..160557900-chr1:160560881..160563752,3	K562	blood:
3	chr1:160554315..160557129-chr1:160558111..160560745,4	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10797072	0.89[EUR][1000 genomes]
rs10797077	0.89[CHB][hapmap];0.82[TSI][hapmap]
rs10797078	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908787	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10908788	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10908790	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10908793	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11265433	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11265436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265438	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265445	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11265446	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149381	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128290	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324734	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1408597	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1466932	0.91[GIH][hapmap];0.82[TSI][hapmap]
rs1466933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503846	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1503856	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503859	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1503860	0.89[CHB][hapmap]
rs1553458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590450	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1604784	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1875766	0.96[GIH][hapmap];0.82[TSI][hapmap]
rs2050523	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2134705	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369721	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2369723	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438181	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs349251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845627	1.00[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs3898642	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3903887	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3903888	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3904694	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4145896	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4268352	0.83[EUR][1000 genomes]
rs6413899	0.89[EUR][1000 genomes]
rs6427523	0.89[EUR][1000 genomes]
rs6427528	0.89[CHB][hapmap]
rs6427530	0.84[CHB][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6427536	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6427537	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6657941	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6659814	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662885	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6668881	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680709	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6680920	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689237	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6691593	0.89[EUR][1000 genomes]
rs6696595	0.81[EUR][1000 genomes]
rs6700764	0.83[EUR][1000 genomes]
rs724985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7413789	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7519809	0.83[EUR][1000 genomes]
rs7519913	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522715	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7535796	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7543788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555581	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7555826	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs977020	0.96[GIH][hapmap];0.82[TSI][hapmap]

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	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
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160551200-160558400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:160551600-160557400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:160551600-160558600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:160555000-160556200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:160555000-160556200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:160555000-160560400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:160555200-160556600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:160555200-160559000	Weak transcription	GM12878-XiMat	blood
9	chr1:160555600-160557800	Weak transcription	Liver	Liver
10	chr1:160555600-160575200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:160556000-160557400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:160556000-160560400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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