Variant report

Variant	rs9583558
Chromosome Location	chr13:111595874-111595875
allele	A/G
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:6)

rs_ID	r²[population]
rs56028123	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56068217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122783	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60920506	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128710	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
2	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1050379	chr13:111516429-111701302	Genic enhancers Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv541927	chr13:111516429-111701302	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv456121	chr13:111583422-111660113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv563162	chr13:111583422-111660113	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv563163	chr13:111586298-111603888	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv563164	chr13:111595399-111625091	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111591000-111596600	Weak transcription	Placenta	Placenta
2	chr13:111594600-111596400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:111594600-111597000	Enhancers	NHEK	skin
4	chr13:111595200-111596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:111595200-111596200	Weak transcription	HSMMtube	muscle
6	chr13:111595200-111596600	Weak transcription	GM12878-XiMat	blood
7	chr13:111595600-111596000	Weak transcription	K562	blood
8	chr13:111595600-111596800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:111595800-111596200	Enhancers	Left Ventricle	heart
10	chr13:111595800-111596600	Enhancers	HUVEC	blood vessel
11	chr13:111595800-111596600	Enhancers	NH-A	brain
12	chr13:111595800-111596800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:111595800-111597000	Enhancers	HMEC	breast
14	chr13:111595800-111597200	Enhancers	NHDF-Ad	bronchial
15	chr13:111595800-111597600	Enhancers	Hela-S3	cervix
16	chr13:111595800-111598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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

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