Variant report

Variant	rs8077113
Chromosome Location	chr17:17140643-17140644
allele	C/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	MAX	chr17:17140241-17141236	H1-hESC	embryonic stem cell:	n/a	chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140995-17141004
2	POLR2A	chr17:17140126-17141275	GM18951	blood:	n/a	n/a
3	BHLHE40	chr17:17139680-17141236	K562	blood:	n/a	chr17:17140993-17141006 chr17:17140989-17141010 chr17:17140996-17141005 chr17:17140995-17141004 chr17:17140994-17141003 chr17:17140995-17141004
4	SIX5	chr17:17139986-17141436	A549	lung:	n/a	n/a
5	MAX	chr17:17139966-17140781	K562	blood:	n/a	chr17:17140028-17140037
6	POLR2A	chr17:17139558-17140841	H1-neurons	neurons:	n/a	n/a
7	BRCA1	chr17:17140368-17141150	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr17:17140364-17141171	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr17:17140182-17140686	A549	lung:	n/a	n/a
10	SP1	chr17:17140044-17141330	A549	lung:	n/a	chr17:17140292-17140301 chr17:17140291-17140303 chr17:17140292-17140301 chr17:17140366-17140379 chr17:17140292-17140302 chr17:17140293-17140302 chr17:17140292-17140302 chr17:17140291-17140303
11	POLR2A	chr17:17140227-17141845	GM12891	blood:	n/a	n/a
12	POLR2A	chr17:17139766-17140712	GM12892	blood:	n/a	n/a
13	POLR2A	chr17:17140111-17141339	MCF-7	breast:	n/a	n/a
14	MXI1	chr17:17139733-17141264	GM12878	blood:	n/a	n/a
15	USF1	chr17:17140228-17141293	H1-hESC	embryonic stem cell:	n/a	chr17:17140993-17141006 chr17:17140989-17141010 chr17:17140996-17141005 chr17:17140995-17141004 chr17:17140994-17141003 chr17:17140995-17141004
16	STAT5A	chr17:17140213-17141167	GM12878	blood:	n/a	chr17:17140288-17140300 chr17:17141084-17141092
17	MAX	chr17:17140307-17141206	Hela-S3	cervix:	n/a	chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140995-17141004
18	POLR2A	chr17:17139862-17140654	K562	blood:	n/a	n/a
19	REST	chr17:17140202-17141261	A549	lung:	n/a	chr17:17140543-17140556 chr17:17140561-17140579 chr17:17140475-17140488
20	EP300	chr17:17140159-17141322	ECC-1	luminal epithelium:	n/a	chr17:17140858-17140872
21	POLR2A	chr17:17139123-17141667	K562	blood:	n/a	n/a
22	EP300	chr17:17140092-17141231	SK-N-SH	brain:	n/a	chr17:17140858-17140872
23	CUX1	chr17:17140510-17141189	GM12878	blood:	n/a	n/a
24	EP300	chr17:17140057-17141264	A549	lung:	n/a	chr17:17140858-17140872
25	ZBTB7A	chr17:17139818-17140870	ECC-1	luminal epithelium:	n/a	chr17:17140315-17140326 chr17:17140314-17140325
26	MAX	chr17:17139630-17141265	HepG2	liver:	n/a	chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140028-17140037
27	MAZ	chr17:17139916-17141168	K562	blood:	n/a	chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140028-17140037
28	MAFF	chr17:17140429-17141098	K562	blood:	n/a	n/a
29	PML	chr17:17140083-17141385	GM12878	blood:	n/a	n/a
30	BHLHE40	chr17:17139947-17141220	GM12878	blood:	n/a	chr17:17140993-17141006 chr17:17140989-17141010 chr17:17140996-17141005 chr17:17140995-17141004 chr17:17140994-17141003 chr17:17140995-17141004
31	MYC	chr17:17140305-17140677	MCF-7	breast:	n/a	n/a
32	USF2	chr17:17140341-17141214	H1-hESC	embryonic stem cell:	n/a	chr17:17140993-17141006 chr17:17140989-17141010 chr17:17140996-17141005 chr17:17140995-17141004 chr17:17140994-17141003 chr17:17140995-17141004 chr17:17140993-17141004
33	POLR2A	chr17:17140200-17140784	HCT-116	colon:	n/a	n/a
34	KAP1	chr17:17140490-17141189	U2OS	brain:	n/a	n/a
35	MAX	chr17:17140246-17141269	SK-N-SH	brain:	n/a	chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140995-17141004
36	E2F4	chr17:17140336-17141209	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF7L2	chr17:17140380-17141141	Hela-S3	cervix:	n/a	n/a
38	MAX	chr17:17140281-17141216	GM12878	blood:	n/a	chr17:17140995-17141004 chr17:17140995-17141004 chr17:17140995-17141004
39	ATF3	chr17:17140309-17141244	A549	lung:	n/a	chr17:17140984-17141004 chr17:17140995-17141004
40	SP1	chr17:17139741-17141337	A549	lung:	n/a	chr17:17140292-17140301 chr17:17140291-17140303 chr17:17140292-17140301 chr17:17140366-17140379 chr17:17140292-17140302 chr17:17140293-17140302 chr17:17140292-17140302 chr17:17140291-17140303
41	GATA3	chr17:17140034-17141350	A549	lung:	n/a	n/a
42	SIN3A	chr17:17140042-17141244	GM12878	blood:	n/a	n/a
43	CHD1	chr17:17140340-17141205	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr17:17140202-17140736	GM12892	blood:	n/a	chr17:17140650-17140664
45	SIX5	chr17:17140266-17141199	A549	lung:	n/a	n/a
46	POU2F2	chr17:17140240-17140678	GM12891	blood:	n/a	n/a
47	MAFK	chr17:17140555-17141170	K562	blood:	n/a	chr17:17140932-17140948 chr17:17140932-17140947 chr17:17140932-17140943 chr17:17140933-17140944 chr17:17140931-17140945 chr17:17140932-17140943
48	USF2	chr17:17140405-17141181	HepG2	liver:	n/a	chr17:17140993-17141006 chr17:17140989-17141010 chr17:17140996-17141005 chr17:17140995-17141004 chr17:17140994-17141003 chr17:17140995-17141004 chr17:17140993-17141004
49	TBP	chr17:17140424-17141227	Hela-S3	cervix:	n/a	n/a
50	RCOR1	chr17:17140399-17140730	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17140633-17140683	HCPEpiC	choroid plexus:	n/a
2	chr17:17140597-17140647	SK-N-SH	brain:	n/a
3	chr17:17140597-17140647	HepG2	liver:	n/a
4	chr17:17140597-17140647	HCM	heart:	n/a
5	chr17:17140633-17140683	HCT-116	colon:	n/a
6	chr17:17140597-17140647	IMR90	lung:	fetal
7	chr17:17140633-17140683	HRPEpiC	eye:	n/a
8	chr17:17140633-17140683	U87	brain:	n/a
9	chr17:17140633-17140683	SAEC	small airway:	n/a
10	chr17:17140633-17140683	AoSMC	blood vessel:	n/a
11	chr17:17140633-17140683	AG09319	gingival:	n/a
12	chr17:17140597-17140647	PrEC	prostate:	n/a
13	chr17:17140597-17140647	HMEC	breast:	n/a
14	chr17:17140597-17140647	HRCEpiC	kidney:	n/a
15	chr17:17140633-17140683	LNCaP	prostate:	n/a
16	chr17:17140633-17140683	HPAEpiC	pulmonary alveolar:	n/a
17	chr17:17140597-17140647	HCT-116	colon:	n/a
18	chr17:17140597-17140647	HAEpiC	amniotic membrane:	n/a
19	chr17:17140633-17140683	AG10803	skin:	n/a
20	chr17:17140633-17140683	NHDF-neo	bronchial:	n/a
21	chr17:17140633-17140683	GM12878	blood:	n/a
22	chr17:17140633-17140683	CMK	blood:	n/a
23	chr17:17140597-17140647	T-47D	breast:	n/a
24	chr17:17140633-17140683	HRCEpiC	kidney:	n/a
25	chr17:17140597-17140647	ProgFib	skin:	n/a
26	chr17:17140597-17140647	MCF-7	breast:	n/a
27	chr17:17140633-17140683	NH-A	brain:	n/a
28	chr17:17140633-17140683	HRE	kidney:	n/a
29	chr17:17140597-17140647	H1-hESC	embryonic stem cell:	embryo
30	chr17:17140597-17140647	HUVEC	blood vessel:	n/a
31	chr17:17140597-17140647	NHBE	bronchial:	n/a
32	chr17:17140633-17140683	NT2-D1	testis:	n/a
33	chr17:17140597-17140647	AoSMC	blood vessel:	n/a
34	chr17:17140597-17140647	Caco-2	colon:	n/a
35	chr17:17140633-17140683	Caco-2	colon:	n/a
36	chr17:17140633-17140683	AG09309	skin:	n/a
37	chr17:17140633-17140683	HL-60	blood:	n/a
38	chr17:17140633-17140683	MCF10A-Er-Src	breast:	n/a
39	chr17:17140597-17140647	HCF	heart:	n/a
40	chr17:17140597-17140647	HL-60	blood:	n/a
41	chr17:17140633-17140683	GM06990	blood:	n/a
42	chr17:17140597-17140647	A549	lung:	n/a
43	chr17:17140633-17140683	HCF	heart:	n/a
44	chr17:17140597-17140647	BE2_C	brain:	n/a
45	chr17:17140633-17140683	ProgFib	skin:	n/a
46	chr17:17140597-17140647	Hepatocyte	liver:	n/a
47	chr17:17140633-17140683	SKMC	muscle:	n/a
48	chr17:17140633-17140683	PrEC	prostate:	n/a
49	chr17:17140597-17140647	NH-A	brain:	n/a
50	chr17:17140633-17140683	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17138742..17142464-chr17:17205516..17208012,3	MCF-7	breast:
2	chr17:17131671..17134526-chr17:17137834..17141080,5	MCF-7	breast:
3	chr17:17134971..17137251-chr17:17137733..17141244,3	K562	blood:
4	chr17:17126964..17129201-chr17:17139091..17140803,2	MCF-7	breast:
5	chr17:17139508..17142367-chr17:17182538..17186121,3	MCF-7	breast:
6	chr17:17139354..17141733-chr17:17143268..17148053,6	MCF-7	breast:
7	chr13:111805704..111806343-chr17:17140161..17140763,2	HCT-116	colon:
8	chr17:17140058..17141717-chr17:17149806..17152339,2	MCF-7	breast:
9	chr17:17135534..17137524-chr17:17138995..17141355,2	MCF-7	breast:
10	chr17:17107449..17109941-chr17:17138935..17142587,4	MCF-7	breast:
11	chr17:17126262..17128515-chr17:17140252..17142748,2	MCF-7	breast:
12	chr17:17140568..17141073-chr7:69416276..69416797,2	HCT-116	colon:
13	chr17:17138850..17142014-chr17:17149192..17152269,3	K562	blood:
14	chr17:17139597..17142266-chr17:17398056..17400275,2	MCF-7	breast:
15	chr17:17109583..17111343-chr17:17139423..17141092,2	MCF-7	breast:
16	chr17:17138280..17141930-chr17:17183181..17187644,4	MCF-7	breast:
17	chr17:17107449..17110459-chr17:17138885..17140924,4	K562	blood:
18	chr17:17139635..17142575-chr17:17144486..17149716,4	K562	blood:

Variant related genes	Relation type
ENSG00000266498	TF binding region
ENSG00000226359	TF binding region
FLCN	TF binding region
ENSG00000264187	TF binding region
ENSG00000264187	CpG island
ENSG00000266498	CpG island
FLCN	CpG island
ENSG00000226359	CpG island
ENSG00000179598	Chromatin interaction
ENSG00000265109	Chromatin interaction
ENSG00000226359	Chromatin interaction
ENSG00000205309	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000108551	Chromatin interaction
ENSG00000102606	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12939385	1.00[CEU][hapmap]
rs16961495	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7210263	1.00[CEU][hapmap]
rs7212534	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs7224335	1.00[CEU][hapmap]
rs7224474	1.00[CEU][hapmap]
rs8068606	1.00[CEU][hapmap]
rs8077027	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv1004208	chr17:17136933-17147885	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17138400-17141400	Active TSS	Fetal Intestine Large	intestine
2	chr17:17138400-17142200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:17138600-17141600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr17:17138600-17141800	Active TSS	NHDF-Ad	bronchial
5	chr17:17138800-17141600	Active TSS	HSMMtube	muscle
6	chr17:17139000-17140800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:17139000-17142400	Active TSS	Ovary	ovary
8	chr17:17139200-17141600	Active TSS	Brain Angular Gyrus	brain
9	chr17:17139200-17141800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:17139400-17141400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:17139400-17141400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:17139400-17141400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:17139400-17141400	Active TSS	Aorta	Aorta
14	chr17:17139400-17141400	Active TSS	Lung	lung
15	chr17:17139400-17141400	Active TSS	Right Ventricle	heart
16	chr17:17139400-17141600	Active TSS	Brain Cingulate Gyrus	brain
17	chr17:17139400-17141600	Active TSS	Left Ventricle	heart
18	chr17:17139400-17141600	Active TSS	Pancreas	Pancrea
19	chr17:17139400-17141600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr17:17139400-17141800	Active TSS	Muscle Satellite Cultured Cells	--
21	chr17:17139400-17141800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:17139400-17141800	Active TSS	Colon Smooth Muscle	Colon
23	chr17:17139400-17141800	Active TSS	Psoas Muscle	Psoas
24	chr17:17139400-17141800	Active TSS	NHLF	lung
25	chr17:17139400-17142000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr17:17139400-17142000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:17139400-17142200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr17:17139400-17142200	Active TSS	Gastric	stomach
29	chr17:17139600-17141200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:17139600-17141200	Active TSS	Fetal Muscle Trunk	muscle
31	chr17:17139600-17141400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr17:17139600-17141400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:17139600-17141400	Active TSS	Fetal Stomach	stomach
34	chr17:17139600-17141400	Active TSS	A549	lung
35	chr17:17139600-17141600	Active TSS	Brain Anterior Caudate	brain
36	chr17:17139600-17141600	Active TSS	Fetal Kidney	kidney
37	chr17:17139600-17141600	Active TSS	Small Intestine	intestine
38	chr17:17139600-17141600	Active TSS	Stomach Mucosa	stomach
39	chr17:17139600-17141800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr17:17139600-17141800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:17139600-17141800	Active TSS	Brain Hippocampus Middle	brain
42	chr17:17139600-17141800	Active TSS	Rectal Smooth Muscle	rectum
43	chr17:17139600-17142200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr17:17139600-17142200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr17:17139800-17141200	Active TSS	NH-A	brain
46	chr17:17139800-17141400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:17139800-17141400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr17:17139800-17141400	Active TSS	Fetal Heart	heart
49	chr17:17139800-17141400	Active TSS	Fetal Muscle Leg	muscle
50	chr17:17139800-17141600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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