Variant report

Variant	rs2588594
Chromosome Location	chr7:18845874-18845875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12699982	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699983	0.86[ASN][1000 genomes]
rs12699985	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241157	0.88[ASN][1000 genomes]
rs2440598	0.93[ASN][1000 genomes]
rs35286474	0.80[ASN][1000 genomes]
rs35930688	0.80[ASN][1000 genomes]
rs4001107	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18844000-18847200	Weak transcription	HMEC	breast
2	chr7:18844000-18858000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:18844400-18847400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:18845000-18846600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:18845200-18846600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:18845400-18847200	Weak transcription	Aorta	Aorta
7	chr7:18845600-18847200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:18845800-18846200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:18845800-18846200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:18845800-18846400	Enhancers	hESC Derived CD56+ Ectoderm 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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