Variant report

Variant	rs1533943
Chromosome Location	chr7:39961108-39961109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1798990	1.00[AFR][1000 genomes]
rs4723917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6462954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973725	1.00[AMR][1000 genomes]
rs773389	1.00[AFR][1000 genomes]
rs773390	1.00[AFR][1000 genomes]
rs773392	1.00[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	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3375265	chr7:39939761-39966001	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3347596	chr7:39939761-39969926	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 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	chr7:39950000-39965000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:39959800-39961600	Weak transcription	Liver	Liver
3	chr7:39960600-39961400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:39960600-39961400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:39960600-39962000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:39960600-39962000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:39960600-39962000	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:39960600-39962000	Enhancers	Fetal Muscle Leg	muscle
9	chr7:39960800-39961800	Enhancers	NHEK	skin
10	chr7:39961000-39961200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:39961000-39962600	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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