Variant report

Variant	rs4628254
Chromosome Location	chr8:62669222-62669223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62657535..62660480-chr8:62666874..62669371,2	K562	blood:
2	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
3	chr8:62616378..62628548-chr8:62667442..62677691,25	K562	blood:
4	chr8:62661843..62663438-chr8:62667567..62669884,2	K562	blood:

Variant related genes	Relation type
ENSG00000198363	Chromatin interaction
ENSG00000264408	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10112867	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11786133	0.81[JPT][hapmap]
rs13264781	0.92[EUR][1000 genomes]
rs13266879	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1874219	0.88[JPT][hapmap]
rs28449872	0.93[EUR][1000 genomes]
rs4322003	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002414	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv436576	chr8:62666494-62673163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4628254	ASPH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62667200-62669600	Enhancers	Adipose Nuclei	Adipose
2	chr8:62667400-62671400	Enhancers	Hela-S3	cervix
3	chr8:62667800-62670000	Enhancers	K562	blood
4	chr8:62668000-62669400	Enhancers	Fetal Lung	lung
5	chr8:62668000-62669800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62668200-62669600	Enhancers	Stomach Mucosa	stomach
7	chr8:62668200-62669800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:62668200-62669800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:62668200-62670400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:62668400-62669400	Enhancers	Osteobl	bone
11	chr8:62668600-62669400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:62668600-62670600	Enhancers	A549	lung
13	chr8:62668800-62669800	Enhancers	NHDF-Ad	bronchial
14	chr8:62669000-62669400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:62669000-62669400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:62669000-62669400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:62669000-62669400	Enhancers	Brain Hippocampus Middle	brain
18	chr8:62669000-62669400	Enhancers	Esophagus	oesophagus
19	chr8:62669000-62669400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:62669000-62669400	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:62669000-62669400	Enhancers	Fetal Muscle Leg	muscle
22	chr8:62669000-62669400	Enhancers	Gastric	stomach
23	chr8:62669000-62669400	Enhancers	Lung	lung
24	chr8:62669000-62669400	Enhancers	Ovary	ovary
25	chr8:62669000-62669400	Enhancers	Pancreas	Pancrea
26	chr8:62669000-62669400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:62669000-62669400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:62669000-62669400	Enhancers	NH-A	brain
29	chr8:62669000-62669400	Enhancers	NHLF	lung
30	chr8:62669000-62669600	Enhancers	Brain Substantia Nigra	brain
31	chr8:62669000-62672000	Enhancers	HepG2	liver
32	chr8:62669200-62669400	Enhancers	HUVEC	blood vessel

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