Variant report

Variant	rs4317453
Chromosome Location	chr6:1424362-1424363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1009095	0.89[AFR][1000 genomes]
rs1711954	0.81[AFR][1000 genomes]
rs1711960	0.86[AFR][1000 genomes]
rs1711961	0.89[AFR][1000 genomes]
rs1711962	0.89[AFR][1000 genomes]
rs1737777	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv883370	chr6:1349828-1426790	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv883372	chr6:1374277-1426790	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1419400-1424400	Weak transcription	Fetal Stomach	stomach
2	chr6:1419600-1424400	Weak transcription	Fetal Lung	lung
3	chr6:1423800-1424400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:1423800-1424800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:1423800-1424800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:1423800-1425000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:1423800-1425000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:1423800-1425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:1423800-1425000	Enhancers	Lung	lung
10	chr6:1423800-1425000	Enhancers	NHLF	lung
11	chr6:1424000-1425000	Enhancers	A549	lung
12	chr6:1424000-1425200	Enhancers	NHDF-Ad	bronchial
13	chr6:1424200-1424400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr6:1424200-1424400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:1424200-1424600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:1424200-1425000	Enhancers	Colon Smooth Muscle	Colon
17	chr6:1424200-1425000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
18	chr6:1424200-1425200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:1424200-1425200	Flanking Active TSS	Hela-S3	cervix

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

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