Variant report

Variant	rs42103
Chromosome Location	chr7:27719686-27719687
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs42100	0.91[CEU][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs42101	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs42102	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs42105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42106	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42107	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs42108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42110	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42115	0.96[EUR][1000 genomes]
rs58857361	0.84[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs42103	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27716400-27720800	Enhancers	HepG2	liver
2	chr7:27716800-27719800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:27716800-27720000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27716800-27720000	Enhancers	HMEC	breast
5	chr7:27716800-27720800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:27717400-27720400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:27717600-27721000	Enhancers	NHDF-Ad	bronchial
8	chr7:27718000-27720200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:27718000-27720800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:27718200-27720200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:27718200-27720400	Enhancers	A549	lung
12	chr7:27718600-27723800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:27719000-27719800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:27719200-27720200	Weak transcription	HSMMtube	muscle
15	chr7:27719200-27726000	Weak transcription	Osteobl	bone

Quick Search:

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

what's new

Quick links