Variant report

Variant	rs9643582
Chromosome Location	chr8:67384025-67384026
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	GATA3	chr8:67383533-67384072	MCF-7	breast:	n/a	chr8:67383800-67383808
2	EP300	chr8:67383335-67384063	SK-N-SH	brain:	n/a	n/a
3	SETDB1	chr8:67383543-67384269	U2OS	brain:	n/a	n/a
4	RXRA	chr8:67383423-67384092	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr8:67383540-67384058	MCF-7	breast:	n/a	chr8:67383800-67383808
6	GATA3	chr8:67383356-67384194	SK-N-SH	brain:	n/a	chr8:67383800-67383808
7	NR2F2	chr8:67383430-67384105	MCF-7	breast:	n/a	n/a
8	GATA2	chr8:67383532-67384639	HUVEC	blood vessel:	n/a	n/a
9	TCF12	chr8:67383311-67384144	SK-N-SH	brain:	n/a	n/a
10	JUND	chr8:67383415-67384060	SK-N-SH	brain:	n/a	chr8:67383695-67383706
11	EP300	chr8:67383439-67384043	A549	lung:	n/a	n/a
12	EP300	chr8:67383364-67384080	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr8:67383422-67384214	SK-N-SH	brain:	n/a	chr8:67383800-67383808
14	FOSL2	chr8:67383417-67384072	A549	lung:	n/a	n/a
15	RXRA	chr8:67383465-67384102	SK-N-SH	brain:	n/a	n/a
16	YY1	chr8:67383554-67384054	SK-N-SH	brain:	n/a	n/a
17	FOXM1	chr8:67383300-67384166	SK-N-SH	brain:	n/a	n/a
18	MAX	chr8:67383479-67384053	A549	lung:	n/a	n/a
19	FOSL1	chr8:67383513-67384054	HCT-116	colon:	n/a	n/a
20	JUND	chr8:67383271-67384155	SK-N-SH	brain:	n/a	chr8:67383695-67383706
21	FOSL1	chr8:67383379-67384031	HCT-116	colon:	n/a	n/a
22	GATA3	chr8:67383322-67384241	A549	lung:	n/a	chr8:67383800-67383808
23	MEF2A	chr8:67383453-67384059	SK-N-SH	brain:	n/a	n/a
24	TEAD4	chr8:67383529-67384086	A549	lung:	n/a	n/a
25	TCF12	chr8:67383407-67384080	A549	lung:	n/a	n/a
26	EP300	chr8:67383290-67384049	A549	lung:	n/a	n/a
27	NR2F2	chr8:67383422-67384112	MCF-7	breast:	n/a	n/a
28	TCF12	chr8:67383305-67384118	SK-N-SH	brain:	n/a	n/a
29	TEAD4	chr8:67383487-67384149	SK-N-SH	brain:	n/a	n/a
30	SP1	chr8:67383344-67384070	A549	lung:	n/a	n/a
31	JUND	chr8:67383436-67384031	MCF-7	breast:	n/a	chr8:67383695-67383706
32	JUND	chr8:67383434-67384143	SK-N-SH	brain:	n/a	chr8:67383695-67383706
33	JUND	chr8:67383413-67384056	HCT-116	colon:	n/a	chr8:67383695-67383706
34	NFIC	chr8:67383525-67384111	SK-N-SH	brain:	n/a	n/a
35	CEBPB	chr8:67383447-67384093	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:729976..731206-chr8:67384019..67385398,14	HCT-116	colon:

Variant related genes	Relation type
C8orf46	TF binding region
ENSG00000103266	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12265	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541034	0.82[CHB][hapmap]
rs12541243	0.84[ASN][1000 genomes]
rs12545483	0.82[CHB][hapmap]
rs12546504	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675850	0.83[CHB][hapmap]
rs12677003	0.90[ASN][1000 genomes]
rs13259712	0.84[ASN][1000 genomes]
rs13274386	1.00[CEU][hapmap]
rs1559886	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16932908	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932940	0.82[CHB][hapmap]
rs16932942	0.82[CHB][hapmap]
rs2555580	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs34680830	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35188537	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3739336	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs3824263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651308	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515021	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736458	0.82[CHB][hapmap]
rs746787	0.82[CHB][hapmap]
rs746789	0.82[CHB][hapmap]
rs9643398	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643581	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv465702	chr8:67375519-67385088	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv611457	chr8:67375519-67385088	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9643582	ADHFE1	cis	multi-tissue	Pritchard

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
2	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
3	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:67372800-67384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:67373000-67384400	Weak transcription	Brain Angular Gyrus	brain
8	chr8:67373800-67385400	Weak transcription	Fetal Intestine Small	intestine
9	chr8:67374800-67384600	Weak transcription	Lung	lung
10	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
11	chr8:67375000-67384600	Weak transcription	Right Ventricle	heart
12	chr8:67376400-67384200	Weak transcription	HSMM	muscle
13	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
14	chr8:67376800-67384800	Weak transcription	Fetal Lung	lung
15	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain
16	chr8:67379600-67384200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:67379600-67384200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:67379600-67384200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:67379800-67384400	Weak transcription	Left Ventricle	heart
20	chr8:67380000-67386000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:67380800-67384200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
23	chr8:67381000-67384200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:67381000-67388200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:67381200-67384800	Weak transcription	Liver	Liver
26	chr8:67381600-67386200	Weak transcription	Ovary	ovary
27	chr8:67381800-67384400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:67381800-67385600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:67381800-67389400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:67382200-67384400	Enhancers	NHEK	skin
31	chr8:67382200-67384600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:67382200-67384800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:67382200-67384800	Enhancers	NH-A	brain
34	chr8:67382600-67386200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:67382800-67384400	Enhancers	Osteobl	bone
36	chr8:67382800-67384600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:67382800-67384600	Enhancers	Placenta	Placenta
38	chr8:67382800-67384800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:67382800-67384800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:67382800-67384800	Enhancers	HUVEC	blood vessel
41	chr8:67382800-67384800	Enhancers	NHLF	lung
42	chr8:67382800-67385000	Enhancers	Hela-S3	cervix
43	chr8:67383000-67384200	Enhancers	HSMMtube	muscle
44	chr8:67383000-67384600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:67383000-67384800	Flanking Active TSS	A549	lung
46	chr8:67383000-67384800	Enhancers	HMEC	breast
47	chr8:67383200-67384400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:67383200-67384600	Enhancers	NHDF-Ad	bronchial
49	chr8:67383400-67384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:67383400-67384200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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