Variant report

Variant	rs42101
Chromosome Location	chr7:27716345-27716346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs42100	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42102	0.89[ASW][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs42103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs42105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs42106	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs42107	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs42108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs42109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs42110	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs42115	0.95[EUR][1000 genomes]
rs7778454	0.81[CHB][hapmap]

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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs42101	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs42101	AQP1	cis	cerebellum	SCAN
rs42101	HIBADH	cis	parietal	SCAN
rs42101	HIBADH	cis	cerebellum	SCAN
rs42101	KIAA0087	cis	cerebellum	SCAN
rs42101	TAX1BP1	cis	cerebellum	SCAN
rs42101	HIBADH	cis	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27711400-27717000	Weak transcription	K562	blood
2	chr7:27715800-27719000	Enhancers	Fetal Intestine Large	intestine
3	chr7:27716000-27719200	Enhancers	Fetal Intestine Small	intestine
4	chr7:27716200-27717000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:27716200-27717000	Enhancers	A549	lung
6	chr7:27716200-27717200	Enhancers	NHDF-Ad	bronchial
7	chr7:27716200-27719600	Enhancers	hESC Derived CD56+ Mesoderm 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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