Variant report

Variant	rs7832704
Chromosome Location	chr8:120592815-120592816
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	MAFK	chr8:120592490-120593060	H1-hESC	embryonic stem cell:	n/a	chr8:120592822-120592833 chr8:120592817-120592832 chr8:120592812-120592832 chr8:120592819-120592828 chr8:120592821-120592832 chr8:120592818-120592828 chr8:120592841-120592856 chr8:120592822-120592833
2	MAFK	chr8:120592559-120593059	Hela-S3	cervix:	n/a	chr8:120592822-120592833 chr8:120592817-120592832 chr8:120592812-120592832 chr8:120592819-120592828 chr8:120592821-120592832 chr8:120592818-120592828 chr8:120592841-120592856 chr8:120592822-120592833
3	STAT3	chr8:120592671-120593085	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr8:120592594-120593044	K562	blood:	n/a	chr8:120592816-120592834 chr8:120592840-120592858 chr8:120592815-120592829
5	MYC	chr8:120592719-120593000	MCF10A-Er-Src	breast:	n/a	chr8:120592818-120592827
6	MYC	chr8:120592669-120593081	MCF10A-Er-Src	breast:	n/a	chr8:120592818-120592827
7	JUND	chr8:120590638-120593107	SK-N-SH	brain:	n/a	chr8:120592817-120592827 chr8:120592818-120592826 chr8:120592079-120592087 chr8:120592077-120592088 chr8:120592079-120592086 chr8:120592079-120592088 chr8:120592816-120592828 chr8:120592818-120592825 chr8:120592078-120592087 chr8:120592229-120592241 chr8:120592818-120592826
8	POLR2A	chr8:120592805-120592897	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:120592565-120593092	MCF10A-Er-Src	breast:	n/a	chr8:120592817-120592827 chr8:120592818-120592826 chr8:120592816-120592828 chr8:120592818-120592825 chr8:120592818-120592826
10	FOS	chr8:120592609-120593109	MCF10A-Er-Src	breast:	n/a	chr8:120592817-120592827 chr8:120592818-120592826 chr8:120592816-120592828 chr8:120592818-120592825 chr8:120592818-120592826
11	POLR2A	chr8:120592562-120593054	SK-N-MC	brain:	n/a	n/a
12	CEBPB	chr8:120592710-120592964	A549	lung:	n/a	n/a
13	MAFK	chr8:120592099-120593057	IMR90	lung:	n/a	chr8:120592822-120592833 chr8:120592817-120592832 chr8:120592812-120592832 chr8:120592819-120592828 chr8:120592821-120592832 chr8:120592818-120592828 chr8:120592841-120592856 chr8:120592822-120592833
14	NFE2	chr8:120592663-120593009	K562	blood:	n/a	chr8:120592817-120592832 chr8:120592818-120592827 chr8:120592818-120592828 chr8:120592841-120592856
15	POLR2A	chr8:120592610-120593048	MCF10A-Er-Src	breast:	n/a	n/a
16	BACH1	chr8:120592333-120593101	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAFK	chr8:120592537-120593046	K562	blood:	n/a	chr8:120592822-120592833 chr8:120592817-120592832 chr8:120592812-120592832 chr8:120592819-120592828 chr8:120592821-120592832 chr8:120592818-120592828 chr8:120592841-120592856 chr8:120592822-120592833
18	MAFK	chr8:120592638-120593018	HepG2	liver:	n/a	chr8:120592822-120592833 chr8:120592817-120592832 chr8:120592812-120592832 chr8:120592819-120592828 chr8:120592821-120592832 chr8:120592818-120592828 chr8:120592841-120592856 chr8:120592822-120592833
19	EP300	chr8:120592698-120592974	Hela-S3	cervix:	n/a	chr8:120592818-120592827
20	FOS	chr8:120592669-120593005	MCF10A-Er-Src	breast:	n/a	chr8:120592817-120592827 chr8:120592818-120592826 chr8:120592816-120592828 chr8:120592818-120592825 chr8:120592818-120592826
21	CEBPB	chr8:120592701-120593061	IMR90	lung:	n/a	n/a
22	MAFK	chr8:120592635-120593026	HepG2	liver:	n/a	chr8:120592822-120592833 chr8:120592817-120592832 chr8:120592812-120592832 chr8:120592819-120592828 chr8:120592821-120592832 chr8:120592818-120592828 chr8:120592841-120592856 chr8:120592822-120592833
23	E2F4	chr8:120592574-120593021	MCF10A-Er-Src	breast:	n/a	n/a
24	BACH1	chr8:120592508-120593051	K562	blood:	n/a	n/a
25	UBTF	chr8:120592739-120592818	K562	blood:	n/a	n/a
26	IRF1	chr8:120592699-120592974	K562	blood:	n/a	n/a
27	STAT3	chr8:120592737-120593020	Hela-S3	cervix:	n/a	n/a
28	FOS	chr8:120592616-120593081	MCF10A-Er-Src	breast:	n/a	chr8:120592817-120592827 chr8:120592818-120592826 chr8:120592816-120592828 chr8:120592818-120592825 chr8:120592818-120592826
29	NR3C1	chr8:120592723-120592990	A549	lung:	n/a	n/a
30	STAT3	chr8:120592525-120593155	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr8:120592504-120593205	MCF10A-Er-Src	breast:	n/a	n/a
32	IRF1	chr8:120592594-120592994	K562	blood:	n/a	n/a
33	GATA3	chr8:120590589-120593105	SK-N-SH	brain:	n/a	chr8:120591425-120591437 chr8:120592320-120592336 chr8:120592324-120592333 chr8:120591322-120591332 chr8:120592324-120592331
34	STAT3	chr8:120591089-120593242	MCF10A-Er-Src	breast:	n/a	chr8:120592078-120592087 chr8:120592079-120592088 chr8:120591326-120591334 chr8:120592433-120592444
35	MAFF	chr8:120592640-120593025	HepG2	liver:	n/a	chr8:120592816-120592834 chr8:120592840-120592858 chr8:120592815-120592829

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120591734..120593334-chr8:120594765..120597476,2	K562	blood:

Variant related genes	Relation type
ENPP2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2249015	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305126	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7012253	0.81[EUR][1000 genomes]
rs7012371	0.81[EUR][1000 genomes]
rs745383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs976423	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7832704	NOV	cis	multi-tissue	Pritchard
rs7832704	WDR67	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
5	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
8	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:120576000-120593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:120579400-120597000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:120580000-120595000	Weak transcription	Brain Anterior Caudate	brain
14	chr8:120585000-120595000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:120587000-120594200	Weak transcription	Ovary	ovary
16	chr8:120587000-120594600	Weak transcription	Placenta	Placenta
17	chr8:120587000-120598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:120587600-120595600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:120589000-120595600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:120589000-120598000	Strong transcription	Fetal Lung	lung
21	chr8:120589200-120595000	Strong transcription	Adipose Nuclei	Adipose
22	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
23	chr8:120590600-120594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:120590800-120594200	Weak transcription	Thymus	Thymus
25	chr8:120590800-120596200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:120591000-120593200	Enhancers	HSMM	muscle
27	chr8:120591000-120593600	Enhancers	NH-A	brain
28	chr8:120591000-120594000	Enhancers	HMEC	breast
29	chr8:120591000-120594200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
31	chr8:120591200-120594400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:120591400-120593000	Enhancers	Hela-S3	cervix
33	chr8:120591400-120593200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:120591600-120593000	Enhancers	A549	lung
35	chr8:120591600-120593600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:120591600-120600000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:120591800-120593600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:120591800-120593800	Weak transcription	Liver	Liver
39	chr8:120591800-120594000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:120591800-120594200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:120591800-120594600	Enhancers	Osteobl	bone
42	chr8:120591800-120594800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:120591800-120594800	Weak transcription	Psoas Muscle	Psoas
44	chr8:120591800-120595200	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:120591800-120595400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:120592000-120593600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:120592000-120597400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:120592200-120593400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:120592200-120593600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:120592400-120593000	Enhancers	Primary monocytes fromperipheralblood	blood

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