Variant report

Variant	rs565489410
Chromosome Location	chr18:9136568-9136569
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	ZNF143	chr18:9135910-9136595	H1-hESC	embryonic stem cell:	n/a	chr18:9136244-9136254
2	USF1	chr18:9136372-9137060	A549	lung:	n/a	chr18:9136608-9136624 chr18:9136734-9136745 chr18:9136751-9136762
3	YY1	chr18:9135875-9137655	HepG2	liver:	n/a	chr18:9137372-9137383 chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9137368-9137379 chr18:9136188-9136202 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9136614-9136625 chr18:9137359-9137370 chr18:9137394-9137404 chr18:9136381-9136393
4	JUND	chr18:9135952-9136829	H1-hESC	embryonic stem cell:	n/a	chr18:9136184-9136193
5	REST	chr18:9136368-9136640	HepG2	liver:	n/a	chr18:9136450-9136463
6	EP300	chr18:9136370-9136784	SK-N-SH_RA	brain:	n/a	chr18:9136652-9136668
7	POLR2A	chr18:9135417-9138100	MCF10A-Er-Src	breast:	n/a	n/a
8	YY1	chr18:9136210-9136586	A549	lung:	n/a	chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136242-9136251 chr18:9136381-9136393
9	EGR1	chr18:9136472-9136821	GM12878	blood:	n/a	chr18:9136605-9136619 chr18:9136642-9136652
10	MAX	chr18:9136256-9137891	SK-N-SH	brain:	n/a	n/a
11	ELF1	chr18:9135819-9137771	GM12878	blood:	n/a	chr18:9136176-9136188 chr18:9137621-9137632 chr18:9136190-9136202 chr18:9136245-9136254
12	MXI1	chr18:9135500-9138250	IMR90	lung:	n/a	n/a
13	MAX	chr18:9135786-9137614	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
14	SMARCC1	chr18:9135837-9136989	Hela-S3	cervix:	n/a	n/a
15	MAX	chr18:9135756-9137139	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
16	YY1	chr18:9136189-9136896	SK-N-SH_RA	brain:	n/a	chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9136614-9136625 chr18:9136381-9136393
17	TAF1	chr18:9136070-9137615	HepG2	liver:	n/a	n/a
18	POLR2A	chr18:9136305-9136999	HUVEC	blood vessel:	n/a	n/a
19	BRCA1	chr18:9136380-9136990	GM12878	blood:	n/a	n/a
20	EP300	chr18:9136450-9136903	SK-N-SH_RA	brain:	n/a	chr18:9136652-9136668
21	USF1	chr18:9136567-9137020	HepG2	liver:	n/a	chr18:9136608-9136624 chr18:9136734-9136745 chr18:9136751-9136762
22	TAF1	chr18:9135937-9137175	H1-neurons	neurons:	n/a	n/a
23	ETS1	chr18:9136067-9137086	GM12878	blood:	n/a	chr18:9136183-9136194 chr18:9136610-9136621
24	E2F4	chr18:9136429-9136668	GM12878	blood:	n/a	chr18:9136638-9136649 chr18:9136468-9136478 chr18:9136639-9136651
25	CHD2	chr18:9135774-9137456	Hela-S3	cervix:	n/a	n/a
26	YY1	chr18:9135965-9137659	GM12892	blood:	n/a	chr18:9137372-9137383 chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9137368-9137379 chr18:9136188-9136202 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9136614-9136625 chr18:9137359-9137370 chr18:9137394-9137404 chr18:9136381-9136393
27	MAX	chr18:9135620-9137065	ECC-1	luminal epithelium:	n/a	chr18:9136179-9136189
28	SIN3A	chr18:9136257-9137153	GM12878	blood:	n/a	chr18:9136644-9136655 chr18:9136607-9136618
29	PAX5	chr18:9136017-9137645	GM12892	blood:	n/a	chr18:9136633-9136651 chr18:9136632-9136651
30	TCF12	chr18:9136375-9136704	GM12878	blood:	n/a	n/a
31	POU2F2	chr18:9135833-9137070	GM12891	blood:	n/a	n/a
32	MYC	chr18:9136126-9136915	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
33	POLR2A	chr18:9135689-9137843	Hela-S3	cervix:	n/a	n/a
34	IRF3	chr18:9136413-9136915	GM12878	blood:	n/a	chr18:9136770-9136779
35	TEAD4	chr18:9136384-9136859	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOXA1	chr18:9136410-9136667	ECC-1	luminal epithelium:	n/a	n/a
37	MYC	chr18:9136361-9137024	MCF-7	breast:	n/a	n/a
38	USF1	chr18:9136424-9137157	SK-N-SH_RA	brain:	n/a	chr18:9136608-9136624 chr18:9136734-9136745 chr18:9136751-9136762
39	SP1	chr18:9136381-9136997	H1-hESC	embryonic stem cell:	n/a	chr18:9136978-9136990 chr18:9136477-9136491 chr18:9136694-9136705 chr18:9136769-9136790 chr18:9136979-9136989 chr18:9136640-9136651 chr18:9136680-9136691 chr18:9136978-9136990 chr18:9136979-9136989
40	POLR2A	chr18:9136009-9137029	SK-N-SH	brain:	n/a	n/a
41	RELA	chr18:9136312-9137081	GM18951	blood:	n/a	n/a
42	POLR2A	chr18:9135733-9137922	GM19193	blood:	n/a	n/a
43	FOXA2	chr18:9136369-9136797	A549	lung:	n/a	n/a
44	POLR2A	chr18:9135540-9137259	GM12892	blood:	n/a	n/a
45	USF1	chr18:9135727-9137255	HCT-116	colon:	n/a	chr18:9136608-9136624 chr18:9136734-9136745 chr18:9136751-9136762
46	YY1	chr18:9135917-9137072	SK-N-SH_RA	brain:	n/a	chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9136188-9136202 chr18:9136614-9136625 chr18:9136381-9136393
47	ELK1	chr18:9136059-9137056	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr18:9135872-9137075	K562	blood:	n/a	n/a
49	NRF1	chr18:9136182-9138169	SK-N-SH	brain:	n/a	n/a
50	MAX	chr18:9135763-9137991	GM12878	blood:	n/a	chr18:9136179-9136189

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9136556-9136606	ECC-1	luminal epithelium:	n/a
2	chr18:9136565-9136615	PANC-1	pancreas:	n/a
3	chr18:9136556-9136606	AG10803	skin:	n/a
4	chr18:9136556-9136606	HRE	kidney:	n/a
5	chr18:9136556-9136606	Hela-S3	cervix:	n/a
6	chr18:9136565-9136615	HCM	heart:	n/a
7	chr18:9136565-9136615	AoSMC	blood vessel:	n/a
8	chr18:9136556-9136606	HCM	heart:	n/a
9	chr18:9136565-9136615	AG04450	lung:	fetal
10	chr18:9136556-9136606	HCF	heart:	n/a
11	chr18:9136556-9136606	HAEpiC	amniotic membrane:	n/a
12	chr18:9136565-9136615	GM12892	blood:	n/a
13	chr18:9136565-9136615	NT2-D1	testis:	n/a
14	chr18:9136565-9136615	HNPCEpiC	eye:	n/a
15	chr18:9136556-9136606	AG09319	gingival:	n/a
16	chr18:9136556-9136606	HL-60	blood:	n/a
17	chr18:9136565-9136615	AG04449	skin:	fetal
18	chr18:9136565-9136615	PrEC	prostate:	n/a
19	chr18:9136565-9136615	SAEC	small airway:	n/a
20	chr18:9136556-9136606	HEK293	kidney:	embryo
21	chr18:9136556-9136606	MCF10A-Er-Src	breast:	n/a
22	chr18:9136565-9136615	A549	lung:	n/a
23	chr18:9136556-9136606	NB4	blood:	n/a
24	chr18:9136556-9136606	GM12892	blood:	n/a
25	chr18:9136556-9136606	PANC-1	pancreas:	n/a
26	chr18:9136565-9136615	RPTEC	kidney:	n/a
27	chr18:9136556-9136606	Caco-2	colon:	n/a
28	chr18:9136565-9136615	AG10803	skin:	n/a
29	chr18:9136565-9136615	AG09309	skin:	n/a
30	chr18:9136565-9136615	HepG2	liver:	n/a
31	chr18:9136556-9136606	CMK	blood:	n/a
32	chr18:9136565-9136615	HL-60	blood:	n/a
33	chr18:9136565-9136615	HUVEC	blood vessel:	n/a
34	chr18:9136556-9136606	SK-N-SH_RA	brain:	n/a
35	chr18:9136565-9136615	HCF	heart:	n/a
36	chr18:9136556-9136606	LNCaP	prostate:	n/a
37	chr18:9136565-9136615	H1-hESC	embryonic stem cell:	embryo
38	chr18:9136565-9136615	HAEpiC	amniotic membrane:	n/a
39	chr18:9136556-9136606	GM12891	blood:	n/a
40	chr18:9136556-9136606	ovcar-3	ovarian:	n/a
41	chr18:9136556-9136606	ProgFib	skin:	n/a
42	chr18:9136556-9136606	AG09309	skin:	n/a
43	chr18:9136556-9136606	SKMC	muscle:	n/a
44	chr18:9136556-9136606	K562	blood:	n/a
45	chr18:9136556-9136606	GM06990	blood:	n/a
46	chr18:9136556-9136606	HRCEpiC	kidney:	n/a
47	chr18:9136565-9136615	GM06990	blood:	n/a
48	chr18:9136565-9136615	ProgFib	skin:	n/a
49	chr18:9136565-9136615	GM19239	blood:	n/a
50	chr18:9136556-9136606	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9136119..9137040-chr6:30710256..30710928,2	Hela-S3	cervix:
2	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
3	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
4	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
5	chr18:9116916..9118754-chr18:9136071..9139010,3	K562	blood:
6	chr18:8704166..8706937-chr18:9136436..9139051,3	MCF-7	breast:
7	chr18:8608734..8611272-chr18:9134054..9137046,2	K562	blood:
8	chr18:9018098..9020147-chr18:9136029..9138091,2	K562	blood:
9	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
10	chr18:9102609..9103201-chr18:9135838..9136592,2	MCF-7	breast:
11	chr16:69788330..69789298-chr18:9136242..9137229,2	Hela-S3	cervix:
12	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
13	chr18:9135921..9136800-chr19:1241349..1242081,2	Hela-S3	cervix:
14	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266053	TF binding region
ANKRD12	TF binding region
ENSG00000266053	CpG island
ANKRD12	CpG island
ENSG00000242058	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000099624	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000263847	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000206418	Chromatin interaction
ENSG00000168502	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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 target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3396257	chr18:9135852-9138500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr18:9134800-9137800	Active TSS	Fetal Brain Female	brain
2	chr18:9135000-9139200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr18:9135200-9137000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr18:9135200-9137800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr18:9135200-9138000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr18:9135200-9138200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:9135200-9138200	Active TSS	Spleen	Spleen
8	chr18:9135200-9138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr18:9135200-9138400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr18:9135400-9138000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr18:9135400-9138200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr18:9135400-9139000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr18:9135400-9140200	Active TSS	Psoas Muscle	Psoas
14	chr18:9135600-9136600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:9135600-9137800	Active TSS	Brain Germinal Matrix	brain
16	chr18:9135600-9138000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:9135600-9138000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:9135600-9138000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:9135600-9138200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:9135600-9138400	Active TSS	Esophagus	oesophagus
21	chr18:9135600-9138800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr18:9135600-9139000	Active TSS	A549	lung
23	chr18:9135600-9140000	Active TSS	Right Ventricle	heart
24	chr18:9135600-9140200	Active TSS	NHDF-Ad	bronchial
25	chr18:9135800-9137000	Transcr. at gene 5' and 3'	Right Atrium	heart
26	chr18:9135800-9138000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:9135800-9138200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9135800-9138200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr18:9135800-9138400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr18:9135800-9138400	Active TSS	Fetal Intestine Large	intestine
31	chr18:9135800-9138400	Active TSS	Left Ventricle	heart
32	chr18:9135800-9138600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr18:9135800-9138600	Active TSS	Fetal Intestine Small	intestine
34	chr18:9135800-9138600	Active TSS	Lung	lung
35	chr18:9135800-9138600	Active TSS	Pancreas	Pancrea
36	chr18:9135800-9138600	Active TSS	Small Intestine	intestine
37	chr18:9135800-9138800	Active TSS	Ovary	ovary
38	chr18:9135800-9138800	Active TSS	Hela-S3	cervix
39	chr18:9135800-9139000	Active TSS	Colonic Mucosa	Colon
40	chr18:9135800-9140000	Active TSS	Aorta	Aorta
41	chr18:9135800-9140800	Active TSS	GM12878-XiMat	blood
42	chr18:9136000-9137000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
43	chr18:9136000-9137600	Active TSS	Primary T cells from cord blood	blood
44	chr18:9136000-9137600	Active TSS	Fetal Kidney	kidney
45	chr18:9136000-9137800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:9136000-9137800	Active TSS	Primary B cells from peripheral blood	blood
47	chr18:9136000-9137800	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr18:9136000-9137800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr18:9136000-9137800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr18:9136000-9137800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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