Variant report

Variant	rs4590476
Chromosome Location	chr8:121381337-121381338
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10098436	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109431	0.93[ASN][1000 genomes]
rs10955971	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1129080	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1129353	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780830	0.91[ASN][1000 genomes]
rs11781786	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12545308	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546007	0.96[ASN][1000 genomes]
rs12674727	0.90[ASN][1000 genomes]
rs12675235	0.87[ASN][1000 genomes]
rs12676755	0.87[ASN][1000 genomes]
rs12678531	0.91[ASN][1000 genomes]
rs12678788	0.93[ASN][1000 genomes]
rs12680641	0.87[ASN][1000 genomes]
rs13252173	0.93[ASN][1000 genomes]
rs13263962	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16893976	1.00[ASN][1000 genomes]
rs2429	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242313	0.91[ASN][1000 genomes]
rs4448321	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4452825	0.95[ASN][1000 genomes]
rs4463470	1.00[ASN][1000 genomes]
rs4565499	0.91[ASN][1000 genomes]
rs4573322	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871067	0.91[ASN][1000 genomes]
rs61203971	0.93[ASN][1000 genomes]
rs6415474	0.91[ASN][1000 genomes]
rs6469920	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469921	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984090	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985660	0.93[ASN][1000 genomes]
rs7002445	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015443	1.00[ASN][1000 genomes]
rs73315165	0.93[ASN][1000 genomes]
rs73315171	0.93[ASN][1000 genomes]
rs73315174	0.91[ASN][1000 genomes]
rs73315182	0.91[ASN][1000 genomes]
rs7812590	0.93[ASN][1000 genomes]
rs7814949	0.87[ASN][1000 genomes]
rs7818026	0.95[ASN][1000 genomes]
rs7819405	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826906	0.91[ASN][1000 genomes]
rs7832933	0.89[ASN][1000 genomes]
rs7834496	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835198	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835363	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297619	0.91[ASN][1000 genomes]
rs9650081	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121333800-121383800	Weak transcription	Fetal Intestine Large	intestine
2	chr8:121369600-121406200	Weak transcription	Left Ventricle	heart
3	chr8:121372400-121383000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:121373200-121383000	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:121373400-121381800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:121374000-121381600	Weak transcription	Placenta	Placenta
7	chr8:121376400-121391000	Weak transcription	Ovary	ovary
8	chr8:121378000-121382000	Weak transcription	HSMMtube	muscle
9	chr8:121378800-121381600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:121378800-121392000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:121379000-121381800	Strong transcription	Fetal Lung	lung
12	chr8:121379200-121381400	Weak transcription	Aorta	Aorta
13	chr8:121379200-121384800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:121379200-121384800	Weak transcription	Osteobl	bone
15	chr8:121379200-121390600	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:121379400-121384400	Weak transcription	NHLF	lung
17	chr8:121379600-121384600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:121379600-121385000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:121379800-121384600	Weak transcription	NHDF-Ad	bronchial
20	chr8:121380000-121384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:121380200-121381400	Weak transcription	Fetal Stomach	stomach
22	chr8:121380200-121381600	Weak transcription	Psoas Muscle	Psoas
23	chr8:121380200-121384400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:121381000-121384000	Enhancers	Fetal Heart	heart

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