Variant report

Variant	rs4601361
Chromosome Location	chr8:121177524-121177525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10087151	0.95[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs10104973	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs10110722	0.92[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808507	0.91[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap]
rs10955954	0.95[CEU][hapmap]
rs11774123	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs12543460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678023	0.95[CEU][hapmap]
rs1519814	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs4133251	0.88[EUR][1000 genomes]
rs4271006	0.95[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs4369033	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs4478617	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4504680	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4588897	0.95[CEU][hapmap];0.81[CHD][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs4871036	0.86[CEU][hapmap]
rs4871037	0.95[CEU][hapmap]
rs4871040	0.87[EUR][1000 genomes]
rs4871041	0.95[CEU][hapmap];0.81[CHD][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs4871045	0.88[EUR][1000 genomes]
rs6469900	0.95[CEU][hapmap]
rs6469901	0.88[EUR][1000 genomes]
rs6469902	0.95[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs6983133	0.88[EUR][1000 genomes]
rs6992410	0.95[CEU][hapmap]
rs6995843	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs7000103	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs7000609	0.95[CEU][hapmap];0.82[TSI][hapmap]
rs7016388	0.86[CEU][hapmap];0.82[TSI][hapmap]
rs7818027	0.88[EUR][1000 genomes]
rs7826920	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4601361	MTBP	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121159600-121186200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:121166400-121177600	Weak transcription	Placenta	Placenta
3	chr8:121167000-121178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:121170800-121179600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:121172600-121178400	Enhancers	Fetal Intestine Small	intestine
6	chr8:121173400-121178800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:121173600-121178400	Enhancers	Fetal Intestine Large	intestine
8	chr8:121174200-121179600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:121174200-121179800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:121175400-121177600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:121175600-121177600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:121175600-121179400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:121175600-121183600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:121176400-121180200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:121176600-121177800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:121176600-121178400	Enhancers	Ovary	ovary
17	chr8:121176600-121180400	Enhancers	Fetal Lung	lung
18	chr8:121176800-121177600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:121176800-121177800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:121176800-121178200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:121176800-121178400	Enhancers	Osteobl	bone
22	chr8:121176800-121179200	Enhancers	Aorta	Aorta
23	chr8:121177400-121177800	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links