Variant report

Variant	rs60420552
Chromosome Location	chr8:39981652-39981653
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11988447	1.00[EUR][1000 genomes]
rs13254133	1.00[EUR][1000 genomes]
rs4467925	1.00[EUR][1000 genomes]
rs59010645	1.00[EUR][1000 genomes]
rs59936756	1.00[EUR][1000 genomes]
rs7814906	1.00[EUR][1000 genomes]
rs7844209	1.00[EUR][1000 genomes]
rs9298589	1.00[EUR][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39973600-39982400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:39973600-39984000	Weak transcription	Left Ventricle	heart
3	chr8:39976800-39981800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:39977000-39981800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:39978400-39983000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:39981000-39983200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:39981200-39983000	Enhancers	Stomach Mucosa	stomach
8	chr8:39981200-39983000	Enhancers	HepG2	liver
9	chr8:39981200-39983400	Enhancers	Colon Smooth Muscle	Colon
10	chr8:39981200-39984400	Enhancers	HUVEC	blood vessel
11	chr8:39981400-39981800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:39981400-39982000	Enhancers	Adipose Nuclei	Adipose
13	chr8:39981400-39982000	Enhancers	Fetal Intestine Small	intestine
14	chr8:39981400-39982200	Enhancers	Brain Anterior Caudate	brain
15	chr8:39981400-39982200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:39981400-39982600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr8:39981400-39982800	Enhancers	NH-A	brain
18	chr8:39981400-39983000	Enhancers	Brain Substantia Nigra	brain
19	chr8:39981400-39983000	Enhancers	A549	lung
20	chr8:39981400-39983200	Enhancers	Rectal Smooth Muscle	rectum
21	chr8:39981400-39983400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:39981600-39981800	Enhancers	Brain Angular Gyrus	brain
23	chr8:39981600-39982000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:39981600-39982600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:39981600-39982600	Weak transcription	Gastric	stomach
26	chr8:39981600-39982600	Weak transcription	Ovary	ovary
27	chr8:39981600-39982600	Weak transcription	Pancreas	Pancrea
28	chr8:39981600-39982600	Weak transcription	Right Atrium	heart
29	chr8:39981600-39982800	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:39981600-39983000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:39981600-39983000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:39981600-39983000	Enhancers	Hela-S3	cervix
33	chr8:39981600-39983200	Enhancers	Fetal Lung	lung

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