Variant report

Variant	rs12072093
Chromosome Location	chr1:160747138-160747139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11265476	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265486	1.00[AMR][1000 genomes]
rs12077897	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2077485	0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs473433	1.00[AMR][1000 genomes]
rs474034	1.00[AMR][1000 genomes]
rs488955	1.00[AMR][1000 genomes]
rs529608	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs529878	1.00[AMR][1000 genomes]
rs534500	1.00[AMR][1000 genomes]
rs549626	1.00[AMR][1000 genomes]
rs577260	0.83[AMR][1000 genomes]
rs580429	1.00[AMR][1000 genomes]
rs74124280	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124282	1.00[AMR][1000 genomes]
rs911227	0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][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	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
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv947134	chr1:160742631-160749214	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160738400-160747400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:160743200-160747400	Enhancers	GM12878-XiMat	blood
3	chr1:160744800-160747800	Enhancers	Fetal Thymus	thymus
4	chr1:160745200-160750200	Weak transcription	NHEK	skin
5	chr1:160745200-160750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:160745200-160751200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:160745400-160747600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:160745400-160747600	Weak transcription	Esophagus	oesophagus
9	chr1:160745400-160750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:160745400-160750800	Weak transcription	HMEC	breast
11	chr1:160745400-160764800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:160746000-160747800	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:160746400-160751000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:160747000-160747800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:160747000-160751400	Weak transcription	Primary B cells from cord blood	blood

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

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