Variant report

Variant	rs987435
Chromosome Location	chr7:78599583-78599584
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12537792	0.88[ASN][1000 genomes]
rs12705836	0.84[ASW][hapmap]
rs12705859	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1624161	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1642888	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17151725	0.84[ASW][hapmap]
rs17505	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2052403	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2280607	0.91[YRI][hapmap]
rs4507689	0.90[ASN][1000 genomes]
rs4730569	0.81[GIH][hapmap];0.87[JPT][hapmap]
rs7797351	0.91[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7799287	0.95[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv482826	chr7:78548319-78717605	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471642	chr7:78548320-78717605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs987435	ZP3	cis	cerebellum	SCAN
rs987435	HGF	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78598600-78600000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:78598600-78603000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:78598800-78599800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:78599000-78600200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:78599200-78600600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:78599200-78600800	Enhancers	NHDF-Ad	bronchial
7	chr7:78599400-78599800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:78599400-78600400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:78599400-78600800	Enhancers	Osteobl	bone

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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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