Variant report

Variant	rs6588636
Chromosome Location	chr1:56946799-56946800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10789022	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10888973	0.92[ASN][1000 genomes]
rs10888974	0.99[ASN][1000 genomes]
rs11206820	0.83[ASN][1000 genomes]
rs11206822	0.85[ASN][1000 genomes]
rs11206823	0.82[EUR][1000 genomes]
rs11206825	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11206826	0.87[ASN][1000 genomes]
rs11206828	0.90[ASN][1000 genomes]
rs1134183	0.92[ASN][1000 genomes]
rs11811433	0.92[ASN][1000 genomes]
rs12128107	0.86[ASN][1000 genomes]
rs12755498	0.86[ASN][1000 genomes]
rs12755655	0.86[ASN][1000 genomes]
rs2780866	0.81[ASN][1000 genomes]
rs2780867	0.99[ASN][1000 genomes]
rs36018890	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4554741	0.92[ASN][1000 genomes]
rs4628	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4638151	0.92[ASN][1000 genomes]
rs4912291	0.82[EUR][1000 genomes]
rs4912303	0.90[ASN][1000 genomes]
rs6588637	0.93[ASN][1000 genomes]
rs6664934	0.94[ASN][1000 genomes]
rs6676745	0.85[ASN][1000 genomes]
rs7516563	0.99[ASN][1000 genomes]
rs7532239	0.94[ASN][1000 genomes]
rs7536157	0.99[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6588636	ACOT11	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56943800-56948200	Weak transcription	HUVEC	blood vessel
2	chr1:56943800-56957000	Weak transcription	HSMM	muscle
3	chr1:56943800-56957200	Weak transcription	Psoas Muscle	Psoas
4	chr1:56943800-56957400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:56943800-56957600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:56943800-56959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:56944000-56957400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:56944400-56949400	Enhancers	HepG2	liver
9	chr1:56944400-56957200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:56944400-56957200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:56944400-56959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:56944600-56948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:56944600-56956400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:56944600-56957400	Weak transcription	Lung	lung
15	chr1:56944600-56957800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:56944800-56955800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:56944800-56957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:56944800-56957200	Weak transcription	Fetal Stomach	stomach
19	chr1:56944800-56957200	Weak transcription	Right Ventricle	heart
20	chr1:56944800-56957400	Weak transcription	Left Ventricle	heart
21	chr1:56944800-56960800	Weak transcription	Fetal Kidney	kidney
22	chr1:56945200-56957200	Weak transcription	Placenta	Placenta
23	chr1:56945800-56957200	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links