Variant report

Variant	rs7461109
Chromosome Location	chr8:125844898-125844899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125844772..125847545-chr8:125849110..125851069,2	K562	blood:
2	chr8:125838350..125840012-chr8:125843186..125845193,2	MCF-7	breast:
3	chr8:125843629..125846063-chr8:125847021..125848938,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10087033	0.95[ASN][1000 genomes]
rs12216828	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216831	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216874	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923682	0.95[ASN][1000 genomes]
rs6470287	1.00[JPT][hapmap]
rs66657825	0.95[ASN][1000 genomes]
rs67259800	0.95[ASN][1000 genomes]
rs72716983	0.95[ASN][1000 genomes]
rs9649956	1.00[JPT][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv528288	chr8:125838127-125847357	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7461109	KLHL38	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125836400-125850800	Weak transcription	Right Atrium	heart
2	chr8:125842200-125845600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125842400-125845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:125842400-125846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125842400-125846600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:125843000-125845400	Enhancers	NHEK	skin
7	chr8:125843400-125845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:125843600-125845200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:125843600-125845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:125843600-125846400	Weak transcription	Fetal Heart	heart
11	chr8:125843600-125846600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:125843600-125846800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:125843600-125846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:125843800-125845200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:125843800-125845600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:125843800-125846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125844000-125845000	Weak transcription	K562	blood
18	chr8:125844000-125846600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:125844000-125846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:125844600-125845600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:125844600-125845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:125844600-125845800	Enhancers	Esophagus	oesophagus
23	chr8:125844800-125845200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:125844800-125845400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links