Variant report

Variant	rs4301443
Chromosome Location	chr8:58655274-58655275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10808685	0.82[YRI][hapmap]
rs10808686	0.81[YRI][hapmap]
rs10957018	0.82[ASN][1000 genomes]
rs13255034	0.82[YRI][hapmap]
rs4237018	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4237019	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4397388	0.82[YRI][hapmap]
rs4532583	0.82[ASN][1000 genomes]
rs4559230	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560771	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4738615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738617	0.89[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7000187	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7000215	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7000222	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv890937	chr8:58600994-58695807	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4301443	LOC283392	trans	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58651800-58658600	Weak transcription	Gastric	stomach
2	chr8:58651800-58660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:58653800-58658000	Weak transcription	HepG2	liver
4	chr8:58654000-58657800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:58654000-58657800	Weak transcription	Liver	Liver
6	chr8:58654000-58657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:58654000-58657800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:58654200-58656800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:58654200-58656800	Enhancers	NHDF-Ad	bronchial
10	chr8:58654200-58657800	Weak transcription	Adipose Nuclei	Adipose
11	chr8:58654200-58657800	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:58654200-58657800	Weak transcription	Ovary	ovary
13	chr8:58654200-58657800	Weak transcription	Hela-S3	cervix
14	chr8:58654200-58658000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:58654200-58658000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:58654200-58658200	Weak transcription	Fetal Lung	lung
17	chr8:58654200-58658600	Weak transcription	Spleen	Spleen
18	chr8:58654200-58660400	Weak transcription	Fetal Kidney	kidney
19	chr8:58654400-58656200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:58654400-58656400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:58654400-58657800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:58654400-58657800	Weak transcription	NHLF	lung
23	chr8:58654400-58658000	Weak transcription	Psoas Muscle	Psoas
24	chr8:58654600-58657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:58654600-58658000	Weak transcription	Fetal Stomach	stomach
26	chr8:58654800-58656000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:58654800-58656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:58654800-58657800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:58654800-58657800	Weak transcription	Osteobl	bone
30	chr8:58654800-58658000	Weak transcription	HSMMtube	muscle
31	chr8:58655000-58657800	Weak transcription	HSMM	muscle
32	chr8:58655000-58660400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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