Variant report

Variant	rs10112867
Chromosome Location	chr8:62679252-62679253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:62679121-62680607	HepG2	liver:	n/a	chr8:62679946-62679958
2	REST	chr8:62679184-62680730	A549	lung:	n/a	n/a
3	SIX5	chr8:62678080-62680838	A549	lung:	n/a	chr8:62680150-62680159
4	TCF12	chr8:62679146-62680678	A549	lung:	n/a	n/a
5	FOSL2	chr8:62679050-62680607	A549	lung:	n/a	chr8:62679997-62680006
6	MAX	chr8:62679216-62680571	A549	lung:	n/a	n/a
7	POLR2A	chr8:62678450-62680226	U87	brain:	n/a	n/a
8	EP300	chr8:62677890-62680784	A549	lung:	n/a	chr8:62678169-62678179
9	EP300	chr8:62679232-62680527	HepG2	liver:	n/a	n/a
10	BCL3	chr8:62678111-62680639	A549	lung:	n/a	n/a
11	EP300	chr8:62678003-62680622	A549	lung:	n/a	chr8:62678169-62678179
12	POLR2A	chr8:62679252-62680241	HepG2	liver:	n/a	n/a
13	NR2F2	chr8:62679142-62680540	HepG2	liver:	n/a	chr8:62679891-62679906
14	MXI1	chr8:62679124-62680102	Hela-S3	cervix:	n/a	n/a
15	RXRA	chr8:62679252-62680169	HepG2	liver:	n/a	n/a
16	SP1	chr8:62679156-62680535	A549	lung:	n/a	n/a
17	ARID3A	chr8:62679115-62680440	HepG2	liver:	n/a	n/a
18	CEBPB	chr8:62679235-62679550	K562	blood:	n/a	n/a
19	CEBPB	chr8:62679209-62680434	HCT-116	colon:	n/a	chr8:62679961-62679972 chr8:62679803-62679811
20	MAFK	chr8:62679090-62680245	HepG2	liver:	n/a	chr8:62679504-62679515 chr8:62679504-62679515 chr8:62679503-62679517 chr8:62680034-62680048 chr8:62679505-62679516 chr8:62679505-62679516
21	POLR2A	chr8:62679251-62679291	Hela-S3	cervix:	n/a	n/a
22	GATA3	chr8:62678997-62680734	A549	lung:	n/a	n/a
23	JUND	chr8:62679227-62680315	HepG2	liver:	n/a	chr8:62679836-62679847 chr8:62679997-62680006
24	POLR2A	chr8:62679010-62680169	U87	brain:	n/a	n/a
25	JUND	chr8:62679190-62680205	SK-N-SH	brain:	n/a	chr8:62679836-62679847 chr8:62679997-62680006
26	FOXA1	chr8:62679241-62680519	HepG2	liver:	n/a	chr8:62679946-62679958
27	POLR2A	chr8:62678940-62680197	U87	brain:	n/a	n/a
28	CEBPB	chr8:62679245-62680157	IMR90	lung:	n/a	chr8:62679961-62679972 chr8:62679803-62679811
29	CEBPB	chr8:62679238-62680161	Hela-S3	cervix:	n/a	chr8:62679961-62679972 chr8:62679803-62679811
30	EP300	chr8:62679147-62680199	Hela-S3	cervix:	n/a	n/a
31	SP1	chr8:62678049-62680930	A549	lung:	n/a	n/a
32	CEBPB	chr8:62678037-62680579	A549	lung:	n/a	chr8:62679961-62679972 chr8:62679803-62679811 chr8:62679094-62679105
33	JUN	chr8:62679238-62680284	HepG2	liver:	n/a	chr8:62679997-62680006
34	CEBPB	chr8:62679224-62680170	HepG2	liver:	n/a	chr8:62679961-62679972 chr8:62679803-62679811
35	FOXA1	chr8:62679213-62680483	HepG2	liver:	n/a	chr8:62679946-62679958
36	CEBPB	chr8:62679180-62680176	A549	lung:	n/a	chr8:62679961-62679972 chr8:62679803-62679811
37	ATF3	chr8:62679251-62680419	A549	lung:	n/a	n/a
38	MYBL2	chr8:62679236-62680592	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62678357..62681293-chr8:64079795..64081873,2	MCF-7	breast:
2	chr8:62620081..62623599-chr8:62678566..62680861,4	K562	blood:
3	chr8:62600772..62604882-chr8:62678013..62681248,3	MCF-7	breast:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62623606..62628376-chr8:62679233..62685137,7	K562	blood:
6	chr8:62678761..62681544-chr8:62788290..62791264,2	K562	blood:

Variant related genes	Relation type
ENSG00000251127	TF binding region
ENSG00000185728	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000264408	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11783343	0.80[TSI][hapmap]
rs11786133	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs13264781	0.92[EUR][1000 genomes]
rs13266879	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874219	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs28449872	0.93[EUR][1000 genomes]
rs4322003	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4628254	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7002414	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10112867	ASPH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62672800-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:62674200-62679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:62674400-62681600	Enhancers	Hela-S3	cervix
4	chr8:62675200-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:62675400-62679400	Weak transcription	HMEC	breast
6	chr8:62675400-62679400	Weak transcription	NHEK	skin
7	chr8:62677000-62679400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:62678200-62679600	Flanking Active TSS	A549	lung
9	chr8:62678400-62680200	Enhancers	K562	blood
10	chr8:62678400-62680200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:62678400-62680400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:62678400-62680400	Enhancers	NHDF-Ad	bronchial
13	chr8:62678400-62680600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:62678400-62680600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:62678400-62680800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:62678400-62680800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr8:62678400-62680800	Enhancers	NHLF	lung
18	chr8:62678800-62679400	Weak transcription	Fetal Lung	lung
19	chr8:62678800-62680400	Enhancers	Osteobl	bone
20	chr8:62679000-62679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:62679000-62679800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:62679200-62679400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:62679200-62679600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:62679200-62679800	Flanking Active TSS	HepG2	liver
25	chr8:62679200-62680200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:62679200-62680200	Enhancers	HSMM	muscle
27	chr8:62679200-62680200	Enhancers	NH-A	brain
28	chr8:62679200-62680400	Enhancers	Liver	Liver

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