Variant report

Variant	rs10103451
Chromosome Location	chr8:62631406-62631407
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	E2F4	chr8:62630908-62631484	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL1	chr8:62630923-62631524	HCT-116	colon:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
3	STAT3	chr8:62630858-62631530	MCF10A-Er-Src	breast:	n/a	chr8:62630887-62630895 chr8:62631224-62631233 chr8:62631225-62631234 chr8:62631101-62631110
4	GATA3	chr8:62630729-62632574	A549	lung:	n/a	chr8:62631947-62631968 chr8:62631954-62631961 chr8:62631449-62631459
5	JUND	chr8:62631052-62631560	K562	blood:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
6	FOS	chr8:62630929-62631544	MCF10A-Er-Src	breast:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
7	FOS	chr8:62631017-62631432	MCF10A-Er-Src	breast:	n/a	chr8:62631226-62631233 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
8	MAFK	chr8:62630876-62632408	Hela-S3	cervix:	n/a	chr8:62632243-62632254
9	EP300	chr8:62630693-62635549	A549	lung:	n/a	chr8:62632196-62632210 chr8:62633916-62633925 chr8:62634112-62634121 chr8:62631024-62631038 chr8:62631225-62631234 chr8:62631038-62631052 chr8:62631451-62631460 chr8:62632862-62632876 chr8:62631447-62631461 chr8:62633915-62633929 chr8:62631224-62631233
10	FOS	chr8:62630994-62631428	Hela-S3	cervix:	n/a	chr8:62631226-62631233 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
11	GATA2	chr8:62631035-62631559	HUVEC	blood vessel:	n/a	chr8:62631449-62631459
12	NFYA	chr8:62631039-62631660	Hela-S3	cervix:	n/a	n/a
13	JUND	chr8:62630894-62631515	HCT-116	colon:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
14	TCF7L2	chr8:62630852-62631417	Hela-S3	cervix:	n/a	n/a
15	FOSL1	chr8:62630886-62631672	HCT-116	colon:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
16	SP1	chr8:62630709-62633236	A549	lung:	n/a	n/a
17	TCF12	chr8:62630683-62631445	A549	lung:	n/a	n/a
18	GATA3	chr8:62630958-62631512	MCF-7	breast:	n/a	chr8:62631449-62631459
19	BCL3	chr8:62630803-62632818	A549	lung:	n/a	chr8:62631101-62631110 chr8:62631224-62631233 chr8:62631225-62631234
20	FOSL2	chr8:62630667-62631593	A549	lung:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
21	FOS	chr8:62630685-62631466	HUVEC	blood vessel:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
22	EP300	chr8:62630699-62631504	A549	lung:	n/a	chr8:62631024-62631038 chr8:62631225-62631234 chr8:62631038-62631052 chr8:62631451-62631460 chr8:62631447-62631461 chr8:62631224-62631233
23	PRDM1	chr8:62630953-62631438	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr8:62630714-62631480	A549	lung:	n/a	chr8:62630985-62630998
25	STAT3	chr8:62630825-62631525	Hela-S3	cervix:	n/a	chr8:62630887-62630895 chr8:62631224-62631233 chr8:62631225-62631234 chr8:62631101-62631110
26	STAT3	chr8:62630871-62632403	MCF10A-Er-Src	breast:	n/a	chr8:62630887-62630895 chr8:62631224-62631233 chr8:62631225-62631234 chr8:62631101-62631110
27	RFX5	chr8:62630872-62631470	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr8:62630758-62631503	Hela-S3	cervix:	n/a	n/a
29	EP300	chr8:62630324-62631611	Hela-S3	cervix:	n/a	chr8:62631024-62631038 chr8:62631225-62631234 chr8:62631038-62631052 chr8:62631451-62631460 chr8:62631447-62631461 chr8:62631224-62631233 chr8:62630604-62630618 chr8:62630629-62630643
30	CEBPB	chr8:62630794-62631416	Hela-S3	cervix:	n/a	chr8:62630985-62630998
31	STAT3	chr8:62630865-62631516	MCF10A-Er-Src	breast:	n/a	chr8:62630887-62630895 chr8:62631224-62631233 chr8:62631225-62631234 chr8:62631101-62631110
32	BRCA1	chr8:62630297-62631552	Hela-S3	cervix:	n/a	n/a
33	FOS	chr8:62631035-62631423	MCF10A-Er-Src	breast:	n/a	chr8:62631226-62631233 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
34	JUN	chr8:62630754-62631422	Hela-S3	cervix:	n/a	chr8:62631226-62631233 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
35	FOS	chr8:62630908-62631639	MCF10A-Er-Src	breast:	n/a	chr8:62631226-62631233 chr8:62631449-62631458 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
36	JUND	chr8:62630686-62631432	Hela-S3	cervix:	n/a	chr8:62631226-62631233 chr8:62631223-62631234 chr8:62631224-62631233 chr8:62631225-62631233 chr8:62631225-62631234
37	TBP	chr8:62630799-62631569	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62614589..62616829-chr8:62629652..62632067,2	MCF-7	breast:
2	chr8:62566778..62568715-chr8:62631326..62633040,2	K562	blood:
3	chr8:62630593..62632126-chr8:62695270..62698071,2	MCF-7	breast:
4	chr8:62629746..62631906-chr8:62636531..62638142,2	MCF-7	breast:

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000254119	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10094729	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098830	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10110165	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112762	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11787089	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16927809	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737591	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737592	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013535	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7015761	0.80[ASN][1000 genomes]
rs7018102	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72659056	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72659057	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72659059	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72659065	0.82[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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62627600-62633000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:62627800-62634200	Weak transcription	Aorta	Aorta
3	chr8:62628000-62631800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:62628000-62632000	Weak transcription	Liver	Liver
5	chr8:62628000-62632000	Weak transcription	HSMM	muscle
6	chr8:62628000-62632400	Weak transcription	HSMMtube	muscle
7	chr8:62628000-62633000	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:62628000-62633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:62628000-62634000	Weak transcription	Esophagus	oesophagus
10	chr8:62628000-62634000	Weak transcription	Gastric	stomach
11	chr8:62628000-62634200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:62628000-62634200	Weak transcription	Right Ventricle	heart
13	chr8:62628200-62631800	Weak transcription	K562	blood
14	chr8:62628200-62632000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:62628200-62633600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:62628200-62634000	Weak transcription	Left Ventricle	heart
17	chr8:62628200-62634000	Weak transcription	Pancreas	Pancrea
18	chr8:62628200-62634200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:62628400-62631600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:62628400-62634000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:62628400-62634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:62629200-62633000	Weak transcription	HepG2	liver
23	chr8:62629400-62634000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:62629400-62634200	Weak transcription	Fetal Intestine Small	intestine
25	chr8:62629600-62634200	Enhancers	Hela-S3	cervix
26	chr8:62629800-62638400	Flanking Active TSS	A549	lung
27	chr8:62630000-62636000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:62630200-62634200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:62630400-62635600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:62630600-62633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:62630600-62634200	Enhancers	Osteobl	bone
32	chr8:62630600-62635600	Enhancers	NHLF	lung
33	chr8:62630800-62631600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:62630800-62631600	Enhancers	NH-A	brain
35	chr8:62630800-62631800	Enhancers	Stomach Mucosa	stomach
36	chr8:62630800-62631800	Bivalent Enhancer	HUVEC	blood vessel
37	chr8:62630800-62632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:62630800-62632200	Enhancers	NHEK	skin
39	chr8:62630800-62635000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:62630800-62635600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:62630800-62635800	Enhancers	NHDF-Ad	bronchial
42	chr8:62631000-62631600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:62631000-62631600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:62631000-62632800	Enhancers	Fetal Lung	lung
45	chr8:62631000-62635600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:62631200-62631600	Weak transcription	Adipose Nuclei	Adipose
47	chr8:62631200-62636000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:62631400-62631800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr8:62631400-62632000	Enhancers	HMEC	breast
50	chr8:62631400-62633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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