Variant report

Variant	rs8067470
Chromosome Location	chr17:46128122-46128123
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	USF1	chr17:46128012-46128332	SK-N-SH_RA	brain:	n/a	chr17:46128184-46128195
2	FOS	chr17:46127957-46128266	MCF10A-Er-Src	breast:	n/a	n/a
3	USF1	chr17:46127976-46128403	SK-N-SH_RA	brain:	n/a	chr17:46128184-46128195
4	SPI1	chr17:46128022-46128202	K562	blood:	n/a	n/a
5	BHLHE40	chr17:46127959-46128384	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:46127780-46128531	GM12878	blood:	n/a	n/a
7	FOS	chr17:46127929-46128237	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr17:46127787-46128344	U87	brain:	n/a	n/a
9	MYC	chr17:46128047-46128284	HUVEC	blood vessel:	n/a	chr17:46128186-46128195 chr17:46128188-46128197 chr17:46128185-46128196 chr17:46128184-46128192
10	MYC	chr17:46127853-46128276	MCF10A-Er-Src	breast:	n/a	chr17:46128186-46128195 chr17:46128188-46128197 chr17:46128185-46128196 chr17:46128184-46128192
11	POLR2A	chr17:46127714-46128945	IMR90	lung:	n/a	n/a
12	FOS	chr17:46128014-46128202	MCF10A-Er-Src	breast:	n/a	n/a
13	USF1	chr17:46128055-46128328	K562	blood:	n/a	chr17:46128184-46128195
14	RUNX3	chr17:46128046-46128415	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:46127693-46128571	HUVEC	blood vessel:	n/a	n/a
16	USF1	chr17:46128101-46128316	GM12878	blood:	n/a	chr17:46128184-46128195
17	USF1	chr17:46127997-46128436	SK-N-SH	brain:	n/a	chr17:46128184-46128195
18	STAT3	chr17:46127992-46128342	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr17:46127851-46128375	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr17:46127961-46128531	K562	blood:	n/a	n/a
21	POLR2A	chr17:46127846-46128357	SK-N-SH	brain:	n/a	n/a
22	IKZF1	chr17:46128038-46128428	GM12878	blood:	n/a	n/a
23	STAT3	chr17:46127921-46128222	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr17:46123986-46128643	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr17:46127976-46128372	HUVEC	blood vessel:	n/a	chr17:46128186-46128195 chr17:46128188-46128197 chr17:46128185-46128196 chr17:46128184-46128192
26	POLR2A	chr17:46127766-46128374	HUVEC	blood vessel:	n/a	n/a
27	SPI1	chr17:46127886-46128410	HL-60	blood:	n/a	n/a
28	EBF1	chr17:46128059-46128373	GM12878	blood:	n/a	chr17:46128313-46128324
29	USF1	chr17:46128054-46128292	HepG2	liver:	n/a	chr17:46128184-46128195
30	SIN3AK20	chr17:46127881-46128278	PFSK-1	brain:	n/a	n/a
31	MYC	chr17:46127928-46128163	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr17:46127920-46128311	HUVEC	blood vessel:	n/a	n/a
33	USF2	chr17:46128015-46128386	GM12878	blood:	n/a	chr17:46128184-46128195
34	POLR2A	chr17:46128079-46128455	K562	blood:	n/a	n/a
35	SPI1	chr17:46128025-46128316	HL-60	blood:	n/a	n/a
36	E2F4	chr17:46127920-46128175	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr17:46128048-46128248	HepG2	liver:	n/a	chr17:46128186-46128195 chr17:46128188-46128197 chr17:46128185-46128196 chr17:46128184-46128192
38	POLR2A	chr17:46127846-46128508	HUVEC	blood vessel:	n/a	n/a
39	FOS	chr17:46127942-46128256	MCF10A-Er-Src	breast:	n/a	n/a
40	SIN3AK20	chr17:46127883-46128287	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr17:46127640-46130485	GM12878	blood:	n/a	n/a
42	STAT3	chr17:46127936-46128279	MCF10A-Er-Src	breast:	n/a	n/a
43	USF1	chr17:46128031-46128337	HepG2	liver:	n/a	chr17:46128184-46128195
44	USF1	chr17:46127986-46128286	K562	blood:	n/a	chr17:46128184-46128195
45	POLR2A	chr17:46127789-46128311	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr17:46127888-46128274	MCF10A-Er-Src	breast:	n/a	n/a
47	SPI1	chr17:46128011-46128324	GM12878	blood:	n/a	n/a
48	MXI1	chr17:46127769-46128625	IMR90	lung:	n/a	chr17:46128185-46128194
49	TAF1	chr17:46127852-46128308	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr17:46127852-46128387	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46070951..46073524-chr17:46127134..46129292,2	K562	blood:
2	chr17:46125014..46129511-chr17:46182877..46189561,8	K562	blood:
3	chr17:46126873..46129547-chr17:46183603..46186310,2	MCF-7	breast:
4	chr17:46127803..46129667-chr17:46189331..46192253,2	MCF-7	breast:
5	chr17:46127435..46129625-chr17:46209916..46212813,2	MCF-7	breast:
6	chr17:46123538..46128867-chr17:46183649..46187295,7	MCF-7	breast:

Variant related genes	Relation type
NFE2L1	TF binding region
ENSG00000263412	TF binding region
ENSG00000002919	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11079806	0.82[MKK][hapmap]
rs11079810	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs11079813	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs11650615	0.82[MKK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs11654292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11654342	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11654627	1.00[CHD][hapmap]
rs11658242	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12103808	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544597	0.88[AMR][1000 genomes]
rs1975703	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs56258199	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60843764	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6504067	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs6504114	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs6504115	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7207553	1.00[CEU][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes]
rs7210671	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs7219844	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7220398	0.81[AMR][1000 genomes]
rs7221720	0.82[AMR][1000 genomes]
rs7221897	0.80[CEU][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs7222646	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.81[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7224155	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs7225288	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs73322881	0.84[AMR][1000 genomes]
rs73322886	0.84[AMR][1000 genomes]
rs8065797	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8071697	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs8073220	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9890850	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9893110	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs9900074	0.83[YRI][hapmap]
rs9905800	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.81[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9909922	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8067470	HSD17B1	cis	parietal	SCAN
rs8067470	RUNDC1	cis	cerebellum	SCAN
rs8067470	PNPO	Cis_1M	lymphoblastoid	RTeQTL
rs8067470	SNX11	cis	parietal	SCAN
rs8067470	RP5-890E16.2	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46124200-46128400	Active TSS	HSMMtube	muscle
2	chr17:46124400-46128200	Active TSS	Left Ventricle	heart
3	chr17:46124400-46132200	Active TSS	Psoas Muscle	Psoas
4	chr17:46124600-46129600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr17:46126000-46128200	Active TSS	Right Atrium	heart
6	chr17:46126400-46128400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:46126600-46128200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr17:46126800-46128200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr17:46126800-46128200	Enhancers	Stomach Mucosa	stomach
10	chr17:46126800-46128400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:46126800-46128400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr17:46126800-46128600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:46126800-46131200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:46127000-46128200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:46127000-46128200	Flanking Active TSS	Osteobl	bone
16	chr17:46127200-46128200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:46127200-46128200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:46127200-46128200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:46127200-46128200	Weak transcription	Aorta	Aorta
20	chr17:46127200-46128400	Flanking Active TSS	HUVEC	blood vessel
21	chr17:46127400-46128200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:46127400-46128200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:46127400-46128200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr17:46127400-46128200	Weak transcription	Fetal Brain Female	brain
25	chr17:46127400-46128200	Weak transcription	Ovary	ovary
26	chr17:46127400-46128400	Enhancers	Brain Substantia Nigra	brain
27	chr17:46127400-46128400	Enhancers	Colon Smooth Muscle	Colon
28	chr17:46127400-46131600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:46127600-46128200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:46127600-46128200	Weak transcription	Right Ventricle	heart
31	chr17:46127600-46128200	Enhancers	NHLF	lung
32	chr17:46127600-46128400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr17:46127600-46128800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:46127600-46131000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:46127600-46131000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:46127600-46131800	Genic enhancers	Fetal Stomach	stomach
37	chr17:46127600-46132800	Genic enhancers	Fetal Intestine Small	intestine
38	chr17:46127800-46128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:46127800-46128200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:46127800-46128200	Weak transcription	Primary T cells from cord blood	blood
41	chr17:46127800-46128200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr17:46127800-46128200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr17:46127800-46128200	Weak transcription	Lung	lung
44	chr17:46127800-46128200	Enhancers	Rectal Smooth Muscle	rectum
45	chr17:46127800-46128200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr17:46127800-46128200	Flanking Active TSS	Hela-S3	cervix
47	chr17:46127800-46128200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr17:46127800-46128400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:46127800-46128400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:46127800-46128400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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