Variant report

Variant	rs9999487
Chromosome Location	chr4:143699015-143699016
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:12)

rs_ID	r²[population]
rs10003729	0.90[AFR][1000 genomes]
rs10023784	0.85[AFR][1000 genomes]
rs10033400	1.00[AFR][1000 genomes]
rs10033676	0.85[AFR][1000 genomes]
rs28369300	0.80[AFR][1000 genomes]
rs28391627	1.00[AFR][1000 genomes]
rs28436714	0.90[AFR][1000 genomes]
rs28478866	1.00[AFR][1000 genomes]
rs28529221	1.00[AFR][1000 genomes]
rs28715927	1.00[AFR][1000 genomes]
rs7656996	0.90[AFR][1000 genomes]
rs7697630	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv595606	chr4:143631691-143729595	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143684200-143706000	Weak transcription	Fetal Heart	heart
2	chr4:143697400-143699200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:143698200-143699800	Enhancers	HMEC	breast
4	chr4:143698200-143700200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:143698200-143701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:143698400-143699200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:143698400-143699200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr4:143698400-143699800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:143698400-143719000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:143698600-143699400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:143698800-143704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:143698800-143738600	Weak transcription	Aorta	Aorta
13	chr4:143699000-143714600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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