Variant report

Variant	rs12156078
Chromosome Location	chr8:62671915-62671916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62662413..62665090-chr8:62669593..62672242,2	K562	blood:
2	chr8:62671674..62674406-chr8:62692816..62694496,2	K562	blood:
3	chr8:62637876..62640545-chr8:62671155..62672770,2	K562	blood:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr1:146555118..146557644-chr8:62670729..62672845,2	K562	blood:
6	chr8:62616378..62628548-chr8:62667442..62677691,25	K562	blood:
7	chr8:62656958..62658937-chr8:62671143..62673593,2	K562	blood:
8	chr8:62646741..62649839-chr8:62670597..62672576,3	K562	blood:
9	chr8:62643774..62646108-chr8:62669331..62672229,2	K562	blood:
10	chr8:62649158..62652161-chr8:62671715..62675125,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPH-1	chr8:62671660-62674323	XLOC_007098
2	lnc-ASPH-1	chr8:62671653-62674323	ENSG00000251127

No data

Variant related genes	Relation type
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000230832	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12156424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927847	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16927866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16927875	1.00[CEU][hapmap]
rs16927904	1.00[CEU][hapmap]
rs16927910	1.00[CEU][hapmap]
rs2015490	1.00[CEU][hapmap]
rs2350583	0.97[EUR][1000 genomes]
rs3195249	1.00[CEU][hapmap]
rs4130092	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4295658	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58825446	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682360	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73682362	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62669000-62672000	Enhancers	HepG2	liver
2	chr8:62669400-62672000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:62669400-62672000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:62669400-62672200	Weak transcription	Esophagus	oesophagus
5	chr8:62669400-62672200	Weak transcription	Pancreas	Pancrea
6	chr8:62669400-62672200	Weak transcription	NHLF	lung
7	chr8:62669400-62672400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:62669400-62672400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:62669400-62672600	Weak transcription	Lung	lung
10	chr8:62669400-62672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:62669400-62672800	Weak transcription	Fetal Lung	lung
12	chr8:62669400-62672800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:62669400-62672800	Weak transcription	Gastric	stomach
14	chr8:62669600-62672000	Weak transcription	Adipose Nuclei	Adipose
15	chr8:62669800-62672000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:62669800-62672000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:62669800-62672000	Weak transcription	NHDF-Ad	bronchial
18	chr8:62669800-62672800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:62670800-62672200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:62671000-62675200	Flanking Active TSS	A549	lung
21	chr8:62671400-62672000	Enhancers	NH-A	brain
22	chr8:62671600-62672000	Enhancers	Hela-S3	cervix
23	chr8:62671600-62672400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:62671800-62672000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:62671800-62672000	Enhancers	Osteobl	bone
26	chr8:62671800-62672200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:62671800-62672200	Enhancers	K562	blood
28	chr8:62671800-62672400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:62671800-62672800	Flanking Active TSS	HUVEC	blood vessel
30	chr8:62671800-62674200	Enhancers	Stomach Mucosa	stomach

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