Variant report

Variant	rs12128290
Chromosome Location	chr1:160557308-160557309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160557184..160557879-chr1:160661976..160662561,2	MCF-7	breast:
2	chr1:160555941..160557860-chr1:160560881..160563752,2	K562	blood:
3	chr1:160555941..160557900-chr1:160560881..160563752,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10797072	0.86[AMR][1000 genomes]
rs10797077	0.89[CHB][hapmap];0.82[AMR][1000 genomes]
rs10797078	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10908788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10908790	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10908793	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11265433	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[AMR][1000 genomes]
rs11265436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265438	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265445	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11265446	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149381	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1324734	1.00[CEU][hapmap]
rs1408597	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1466933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503846	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1503856	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503859	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[AMR][1000 genomes]
rs1503860	0.90[CHB][hapmap]
rs1553458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590450	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1604784	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2050523	1.00[CEU][hapmap]
rs2134705	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369721	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2369723	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438181	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs349250	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs349251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3737788	0.82[AMR][1000 genomes]
rs3737789	0.83[AMR][1000 genomes]
rs3766390	0.83[AMR][1000 genomes]
rs3845627	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs3898642	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs4145896	0.87[AMR][1000 genomes]
rs4268352	0.82[AMR][1000 genomes]
rs6413899	0.86[AMR][1000 genomes]
rs6427523	0.86[AMR][1000 genomes]
rs6427528	0.90[CHB][hapmap]
rs6427530	0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6427536	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6427537	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6657941	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6659814	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662885	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs6668881	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680709	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs6680920	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689237	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs6696595	0.81[AMR][1000 genomes]
rs724985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7413789	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7519809	0.82[AMR][1000 genomes]
rs7519913	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522715	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7535796	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7543788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549772	0.84[AMR][1000 genomes]
rs7555581	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs7555826	0.94[AMR][1000 genomes];0.82[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	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:11 , 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	chr1:160555000-160560400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:160555200-160559000	Weak transcription	GM12878-XiMat	blood
6	chr1:160555600-160557800	Weak transcription	Liver	Liver
7	chr1:160555600-160575200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:160556000-160557400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:160556000-160560400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:160556200-160560400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:160557200-160559400	Enhancers	Primary monocytes fromperipheralblood	blood

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