Variant report

Variant	rs11783343
Chromosome Location	chr8:62673021-62673022
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62672838..62674719-chr8:62683973..62685855,2	K562	blood:
2	chr8:62633178..62634921-chr8:62672606..62674291,2	K562	blood:
3	chr8:62671965..62673776-chr8:62679437..62680960,2	MCF-7	breast:
4	chr8:62671674..62674406-chr8:62692816..62694496,2	K562	blood:
5	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
6	chr8:62602720..62604723-chr8:62672948..62674768,2	K562	blood:
7	chr8:62616378..62628548-chr8:62667442..62677691,25	K562	blood:
8	chr8:62656958..62658937-chr8:62671143..62673593,2	K562	blood:
9	chr8:62632734..62634921-chr8:62672762..62674291,2	K562	blood:
10	chr8:62649158..62652161-chr8:62671715..62675125,3	K562	blood:
11	chr8:62596550..62600642-chr8:62671938..62674240,3	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

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10112867	0.80[TSI][hapmap]
rs13266879	0.83[MEX][hapmap];0.84[TSI][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11783343	ASPH	Cis_1M	lymphoblastoid	RTeQTL
rs11783343	BHLHE22	cis	cerebellum	SCAN
rs11783343	YTHDF3	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62671000-62675200	Flanking Active TSS	A549	lung
2	chr8:62671800-62674200	Enhancers	Stomach Mucosa	stomach
3	chr8:62672000-62673200	Flanking Active TSS	Osteobl	bone
4	chr8:62672000-62673400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:62672000-62673600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:62672000-62673600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:62672000-62673600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:62672000-62673600	Flanking Active TSS	NH-A	brain
9	chr8:62672000-62674000	Enhancers	HMEC	breast
10	chr8:62672000-62674000	Enhancers	NHEK	skin
11	chr8:62672000-62674200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:62672000-62674400	Enhancers	Adipose Nuclei	Adipose
13	chr8:62672000-62674400	Flanking Active TSS	Hela-S3	cervix
14	chr8:62672000-62675000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:62672000-62676200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:62672000-62676600	Enhancers	NHDF-Ad	bronchial
17	chr8:62672200-62673200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:62672200-62673200	Enhancers	Spleen	Spleen
19	chr8:62672200-62673400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr8:62672200-62673400	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:62672200-62673400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:62672200-62673600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:62672200-62673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:62672200-62673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:62672200-62673600	Enhancers	Placenta	Placenta
26	chr8:62672200-62674200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:62672200-62674600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:62672200-62674600	Enhancers	NHLF	lung
29	chr8:62672400-62673200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:62672400-62673200	Enhancers	Right Ventricle	heart
31	chr8:62672400-62673400	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:62672600-62673800	Weak transcription	Small Intestine	intestine
33	chr8:62672600-62674000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:62672600-62674600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:62672800-62673200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:62672800-62673600	Enhancers	Fetal Lung	lung
37	chr8:62672800-62674000	Enhancers	Fetal Muscle Leg	muscle
38	chr8:62672800-62674400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:62672800-62674400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:62672800-62674400	Enhancers	HUVEC	blood vessel
41	chr8:62672800-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:62673000-62673800	Flanking Active TSS	K562	blood
43	chr8:62673000-62677000	Enhancers	HepG2	liver

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