Variant report

Variant	rs10099164
Chromosome Location	chr8:126389258-126389259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10108110	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10505454	0.83[JPT][hapmap]
rs10808543	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4242368	0.96[ASN][1000 genomes]
rs4871584	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs4871588	0.89[JPT][hapmap]
rs6470349	0.83[JPT][hapmap]
rs6981550	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6989407	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7004468	0.82[JPT][hapmap]
rs7010333	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7015414	0.95[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7814083	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818760	0.90[ASN][1000 genomes]
rs7819612	0.94[ASN][1000 genomes]
rs7820471	0.95[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7841947	0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7844497	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10099164	KIAA0196	cis	cerebellum	SCAN
rs10099164	HAS2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126375400-126391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:126382000-126391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:126382200-126394200	Weak transcription	Thymus	Thymus
4	chr8:126382400-126396800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:126384000-126391000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:126384200-126396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:126384200-126400200	Weak transcription	NHLF	lung
8	chr8:126384600-126391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:126384600-126391200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:126384800-126391000	Weak transcription	Hela-S3	cervix
11	chr8:126386600-126391000	Weak transcription	A549	lung
12	chr8:126388600-126390000	Enhancers	HepG2	liver
13	chr8:126388600-126390600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:126388800-126389600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:126388800-126390200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:126388800-126390200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:126389000-126391000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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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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