Variant report

Variant	rs642774
Chromosome Location	chr1:84843465-84843466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs315541	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs315542	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs315543	0.88[ASN][1000 genomes]
rs315544	0.88[ASN][1000 genomes]
rs315547	0.93[EUR][1000 genomes]
rs487220	0.88[ASN][1000 genomes]
rs575277	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs642774	HIVEP2	trans	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84838400-84843800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:84838600-84843600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:84839600-84845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:84839800-84844000	Enhancers	Fetal Muscle Leg	muscle
5	chr1:84840200-84845800	Enhancers	Osteobl	bone
6	chr1:84840400-84843800	Enhancers	Brain Hippocampus Middle	brain
7	chr1:84840400-84844000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:84840400-84846400	Enhancers	NHDF-Ad	bronchial
9	chr1:84840600-84845800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:84840800-84846400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:84841800-84844000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:84841800-84844400	Weak transcription	HSMMtube	muscle
13	chr1:84842000-84843600	Enhancers	Colon Smooth Muscle	Colon
14	chr1:84842000-84845600	Enhancers	NH-A	brain
15	chr1:84842200-84844000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:84842400-84843600	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:84842600-84843600	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:84842600-84844000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:84842600-84844000	Enhancers	Brain Anterior Caudate	brain
20	chr1:84842800-84843600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:84842800-84844400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:84842800-84845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:84843000-84844000	Enhancers	HMEC	breast
24	chr1:84843000-84844200	Enhancers	HSMM	muscle
25	chr1:84843000-84845600	Enhancers	NHEK	skin
26	chr1:84843200-84843600	Enhancers	Hela-S3	cervix
27	chr1:84843200-84843800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:84843200-84843800	Enhancers	Brain Angular Gyrus	brain
29	chr1:84843200-84843800	Enhancers	Brain Substantia Nigra	brain
30	chr1:84843200-84843800	Enhancers	Right Ventricle	heart
31	chr1:84843200-84844000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:84843200-84844000	Enhancers	Psoas Muscle	Psoas
33	chr1:84843200-84845800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:84843400-84843600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:84843400-84843800	Flanking Active TSS	NHLF	lung
36	chr1:84843400-84844000	Enhancers	K562	blood

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