Variant report

Variant	rs857590
Chromosome Location	chr1:186255294-186255295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1293972	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1293973	0.92[ASN][1000 genomes]
rs1293992	0.82[ASN][1000 genomes]
rs1293994	0.81[ASN][1000 genomes]
rs1293996	0.83[ASN][1000 genomes]
rs1795022	0.83[ASN][1000 genomes]
rs6425023	0.83[ASN][1000 genomes]
rs6679087	0.83[ASN][1000 genomes]
rs6693803	0.92[ASN][1000 genomes]
rs704307	0.83[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv947342	chr1:186248708-186257519	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186244200-186257000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:186252000-186255600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:186252400-186255800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:186252400-186256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:186252400-186257800	Weak transcription	Fetal Thymus	thymus
6	chr1:186252800-186256400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:186253200-186255400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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