Variant report

Variant	rs190201076
Chromosome Location	chr18:12947901-12947902
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	POLR2A	chr18:12947307-12948778	GM15510	blood:	n/a	n/a
2	REST	chr18:12947171-12948830	HL-60	blood:	n/a	chr18:12947999-12948012 chr18:12948495-12948508 chr18:12948486-12948499
3	GABPA	chr18:12947808-12948570	HepG2	liver:	n/a	chr18:12948431-12948445 chr18:12948436-12948445 chr18:12947967-12947976 chr18:12948434-12948448 chr18:12948454-12948463 chr18:12948247-12948256 chr18:12948234-12948243 chr18:12948384-12948393 chr18:12948434-12948445
4	POLR2A	chr18:12946718-12949058	K562	blood:	n/a	n/a
5	BRCA1	chr18:12947470-12948551	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr18:12946826-12949126	HepG2	liver:	n/a	n/a
7	TCF3	chr18:12947872-12948683	GM12878	blood:	n/a	n/a
8	MYC	chr18:12946836-12948845	K562	blood:	n/a	chr18:12948057-12948066 chr18:12948452-12948461 chr18:12948452-12948461 chr18:12948453-12948460 chr18:12947967-12947977
9	POLR2A	chr18:12946961-12948903	HL-60	blood:	n/a	n/a
10	HEY1	chr18:12947843-12948734	HepG2	liver:	n/a	chr18:12948432-12948447 chr18:12948065-12948080 chr18:12948062-12948077 chr18:12948236-12948251 chr18:12948499-12948514 chr18:12948068-12948083
11	MAX	chr18:12946630-12949025	HepG2	liver:	n/a	chr18:12948057-12948066 chr18:12948452-12948461 chr18:12948452-12948461 chr18:12948453-12948460 chr18:12947967-12947977
12	POLR2A	chr18:12947828-12948829	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr18:12946981-12948835	GM12878	blood:	n/a	n/a
14	POLR2A	chr18:12947799-12948733	A549	lung:	n/a	n/a
15	ZBTB7A	chr18:12947749-12948648	K562	blood:	n/a	n/a
16	POLR2A	chr18:12947795-12948827	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr18:12946838-12948804	K562	blood:	n/a	n/a
18	SIN3AK20	chr18:12947847-12948768	PANC-1	pancreas:	n/a	n/a
19	PML	chr18:12947878-12948754	MCF-7	breast:	n/a	n/a
20	YY1	chr18:12947765-12948737	HepG2	liver:	n/a	chr18:12948064-12948078 chr18:12948063-12948072 chr18:12948070-12948084 chr18:12948289-12948298 chr18:12948498-12948512 chr18:12948063-12948074 chr18:12948069-12948080 chr18:12948495-12948509 chr18:12948510-12948521
21	POLR2A	chr18:12947856-12948562	U87	brain:	n/a	n/a
22	POLR2A	chr18:12947870-12948674	HepG2	liver:	n/a	n/a
23	POLR2A	chr18:12947082-12948789	GM19193	blood:	n/a	n/a
24	POLR2A	chr18:12946770-12948850	K562	blood:	n/a	n/a
25	MAZ	chr18:12946534-12949045	IMR90	lung:	n/a	chr18:12948057-12948066 chr18:12948452-12948461 chr18:12948452-12948461 chr18:12948453-12948460 chr18:12947967-12947977
26	RCOR1	chr18:12946579-12948733	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr18:12947842-12948801	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr18:12947351-12948707	HCT-116	colon:	n/a	n/a
29	POLR2A	chr18:12947852-12948890	GM12878	blood:	n/a	n/a
30	POLR2A	chr18:12947277-12948705	HCT-116	colon:	n/a	n/a
31	POLR2A	chr18:12947028-12948947	PFSK-1	brain:	n/a	n/a
32	MXI1	chr18:12946619-12948978	IMR90	lung:	n/a	n/a
33	E2F6	chr18:12947862-12948962	K562	blood:	n/a	chr18:12948097-12948106 chr18:12948125-12948137 chr18:12948435-12948444 chr18:12948073-12948083 chr18:12948289-12948298 chr18:12948247-12948256 chr18:12948461-12948472 chr18:12948516-12948528 chr18:12948384-12948393 chr18:12948462-12948474 chr18:12948064-12948074
34	POLR2A	chr18:12947253-12948840	H1-neurons	neurons:	n/a	n/a
35	GABPA	chr18:12947788-12948770	MCF-7	breast:	n/a	chr18:12948431-12948445 chr18:12948436-12948445 chr18:12947967-12947976 chr18:12948434-12948448 chr18:12948454-12948463 chr18:12948247-12948256 chr18:12948234-12948243 chr18:12948384-12948393 chr18:12948434-12948445
36	PML	chr18:12947867-12948744	K562	blood:	n/a	n/a
37	SMARCB1	chr18:12946966-12948773	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr18:12947772-12948671	K562	blood:	n/a	chr18:12948431-12948445 chr18:12948436-12948445 chr18:12947967-12947976 chr18:12948434-12948448 chr18:12948454-12948463 chr18:12948247-12948256 chr18:12948234-12948243 chr18:12948384-12948393 chr18:12948434-12948445
39	MAX	chr18:12947306-12948865	HUVEC	blood vessel:	n/a	chr18:12948057-12948066 chr18:12948452-12948461 chr18:12948452-12948461 chr18:12948453-12948460 chr18:12947967-12947977
40	POLR2A	chr18:12947868-12948889	GM12878	blood:	n/a	n/a
41	CBX3	chr18:12947870-12949096	K562	blood:	n/a	n/a
42	FOXP2	chr18:12947585-12948700	PFSK-1	brain:	n/a	n/a
43	SIN3AK20	chr18:12947845-12948657	K562	blood:	n/a	n/a
44	POLR2A	chr18:12947090-12948792	Gliobla	brain:	n/a	n/a
45	IRF1	chr18:12947399-12948605	K562	blood:	n/a	chr18:12947997-12948011 chr18:12947986-12948000 chr18:12947966-12947980
46	POLR2A	chr18:12947424-12948793	A549	lung:	n/a	n/a
47	ELF1	chr18:12947767-12948588	K562	blood:	n/a	chr18:12948063-12948072 chr18:12948072-12948081 chr18:12948503-12948512 chr18:12948065-12948077
48	POLR2A	chr18:12947783-12948811	GM12891	blood:	n/a	n/a
49	POLR2A	chr18:12947863-12948827	GM12892	blood:	n/a	n/a
50	POLR2A	chr18:12946907-12948770	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:
2	chr18:12946771..12949148-chr18:13055556..13057689,2	K562	blood:
3	chr18:12928157..12929851-chr18:12946775..12948725,2	K562	blood:
4	chr18:12700182..12704223-chr18:12944670..12949511,9	K562	blood:
5	chr10:32345131..32345847-chr18:12947608..12948535,2	Hela-S3	cervix:
6	chr18:12373949..12378992-chr18:12946352..12949410,8	K562	blood:
7	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
8	chr18:12702796..12704703-chr18:12947568..12949253,2	MCF-7	breast:
9	chr17:74099568..74100367-chr18:12947471..12948143,2	HCT-116	colon:
10	chr18:12947543..12948398-chr18:45456615..45457403,2	Hela-S3	cervix:
11	chr18:12946986..12949410-chr18:12970714..12972312,2	MCF-7	breast:
12	chr18:12946237..12948654-chr18:13006557..13008669,3	K562	blood:
13	chr18:12946883..12949783-chr18:12990489..12993346,5	MCF-7	breast:
14	chr18:12836738..12838821-chr18:12946925..12949352,2	K562	blood:
15	chr18:12701407..12705081-chr18:12945993..12949483,5	MCF-7	breast:
16	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
17	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
18	chr18:12947622..12948398-chr6:30584786..30585619,2	Hela-S3	cervix:
19	chr18:12700812..12705381-chr18:12946243..12950219,9	K562	blood:
20	chr18:12882771..12885367-chr18:12946819..12949664,2	MCF-7	breast:
21	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
22	chr18:12947857..12948364-chr2:54342415..54343083,2	Hela-S3	cervix:
23	chr18:12375798..12379149-chr18:12946624..12949226,4	MCF-7	breast:
24	chr18:12945869..12950267-chr18:12985686..12992743,10	MCF-7	breast:
25	chr1:31230208..31230808-chr18:12947690..12948690,2	NB4	blood:

Variant related genes	Relation type
SEH1L	TF binding region
ENSG00000175387	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000182473	Chromatin interaction
ENSG00000206660	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000170759	Chromatin interaction
ENSG00000162511	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	esv3342017	chr18:12946977-12949725	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	esv3446919	chr18:12947052-12949000	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 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	chr18:12946200-12949000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:12946200-12949200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:12946200-12949400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:12946400-12948400	Active TSS	GM12878-XiMat	blood
5	chr18:12946400-12948400	Active TSS	HMEC	breast
6	chr18:12946400-12948800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:12946400-12948800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:12946400-12949000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:12946400-12949000	Active TSS	HSMMtube	muscle
10	chr18:12946400-12949200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr18:12946400-12949200	Active TSS	K562	blood
12	chr18:12946400-12949400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:12946400-12949400	Active TSS	HSMM	muscle
14	chr18:12946600-12948400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr18:12946600-12948400	Active TSS	NHLF	lung
16	chr18:12946600-12948600	Active TSS	Fetal Intestine Large	intestine
17	chr18:12946600-12948600	Active TSS	Right Ventricle	heart
18	chr18:12946600-12948600	Active TSS	Hela-S3	cervix
19	chr18:12946600-12948600	Active TSS	HepG2	liver
20	chr18:12946600-12948600	Active TSS	NHDF-Ad	bronchial
21	chr18:12946600-12948800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:12946600-12948800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr18:12946600-12948800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr18:12946600-12949000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr18:12946600-12949000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr18:12946600-12949000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:12946600-12949000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr18:12946600-12949000	Active TSS	A549	lung
29	chr18:12946600-12949200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr18:12946600-12949200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:12946600-12949200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:12946600-12949400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr18:12946600-12949400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:12946800-12948400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:12946800-12948400	Active TSS	Colonic Mucosa	Colon
36	chr18:12946800-12948400	Active TSS	Stomach Smooth Muscle	stomach
37	chr18:12946800-12948600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr18:12946800-12948600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:12946800-12948600	Active TSS	Left Ventricle	heart
40	chr18:12946800-12948600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr18:12946800-12948800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:12946800-12948800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:12946800-12948800	Active TSS	Aorta	Aorta
44	chr18:12946800-12948800	Active TSS	Pancreas	Pancrea
45	chr18:12946800-12948800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr18:12946800-12948800	Active TSS	Stomach Mucosa	stomach
47	chr18:12946800-12949000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr18:12946800-12949000	Active TSS	Brain Angular Gyrus	brain
49	chr18:12946800-12949000	Active TSS	Psoas Muscle	Psoas
50	chr18:12946800-12949200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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