Variant report

Variant	rs75531803
Chromosome Location	chr19:41257185-41257186
allele	C/T
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	chr19:41255477-41257972	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr19:41256345-41257345	HepG2	liver:	n/a	chr19:41257198-41257207 chr19:41256615-41256628
3	IRF3	chr19:41256173-41257232	Hela-S3	cervix:	n/a	chr19:41256755-41256769 chr19:41256442-41256456 chr19:41256736-41256745
4	NFYB	chr19:41256312-41257206	GM12878	blood:	n/a	chr19:41256704-41256714 chr19:41256732-41256747 chr19:41256701-41256716 chr19:41256702-41256716 chr19:41256568-41256583 chr19:41256733-41256747 chr19:41256734-41256749 chr19:41256703-41256716 chr19:41256568-41256583 chr19:41257020-41257034 chr19:41256665-41256678 chr19:41256703-41256718 chr19:41256705-41256717 chr19:41256732-41256747 chr19:41256701-41256716 chr19:41257020-41257035 chr19:41256569-41256583 chr19:41256571-41256581
5	POLR2A	chr19:41255880-41257853	GM15510	blood:	n/a	n/a
6	TAF7	chr19:41256652-41257953	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:41255591-41257965	GM12892	blood:	n/a	n/a
8	RFX5	chr19:41256213-41257264	HepG2	liver:	n/a	chr19:41256665-41256680 chr19:41256671-41256679 chr19:41256571-41256580 chr19:41256704-41256713
9	POLR2A	chr19:41255795-41257990	HepG2	liver:	n/a	n/a
10	MAX	chr19:41255999-41257948	H1-hESC	embryonic stem cell:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
11	STAT5A	chr19:41256932-41257371	GM12878	blood:	n/a	chr19:41257197-41257204
12	FOXA2	chr19:41256222-41257678	A549	lung:	n/a	n/a
13	MYC	chr19:41256220-41257755	MCF10A-Er-Src	breast:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
14	POLR2A	chr19:41256640-41257315	U87	brain:	n/a	n/a
15	USF1	chr19:41255954-41257350	A549	lung:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256460-41256471 chr19:41256462-41256471 chr19:41256419-41256430
16	E2F4	chr19:41256233-41257352	Hela-S3	cervix:	n/a	chr19:41256643-41256654 chr19:41256760-41256770 chr19:41256736-41256745 chr19:41256721-41256736 chr19:41256805-41256815 chr19:41256721-41256736
17	MYC	chr19:41256146-41257842	K562	blood:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
18	POLR2A	chr19:41256675-41257326	HepG2	liver:	n/a	n/a
19	ZNF143	chr19:41256171-41257784	Hela-S3	cervix:	n/a	chr19:41257073-41257091
20	POLR2A	chr19:41255403-41257957	GM12891	blood:	n/a	n/a
21	POLR2A	chr19:41256270-41257327	Gliobla	brain:	n/a	n/a
22	STAT5A	chr19:41256597-41257889	GM12878	blood:	n/a	chr19:41257197-41257204
23	MAX	chr19:41255844-41257827	Hela-S3	cervix:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
24	TBP	chr19:41256104-41257861	K562	blood:	n/a	n/a
25	TAF1	chr19:41256637-41257362	GM12891	blood:	n/a	n/a
26	ZBTB33	chr19:41256112-41257459	SK-N-SH	brain:	n/a	chr19:41257090-41257105 chr19:41257098-41257107
27	MAZ	chr19:41256193-41257548	HepG2	liver:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
28	FOXP2	chr19:41256808-41257389	SK-N-MC	brain:	n/a	n/a
29	YY1	chr19:41256739-41257302	GM12892	blood:	n/a	chr19:41257033-41257049 chr19:41256869-41256880
30	BCL3	chr19:41255259-41258065	A549	lung:	n/a	n/a
31	STAT1	chr19:41256004-41257721	GM12878	blood:	n/a	chr19:41257197-41257204
32	MAX	chr19:41256228-41257777	HUVEC	blood vessel:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
33	PBX3	chr19:41255724-41257395	A549	lung:	n/a	chr19:41257023-41257032
34	MXI1	chr19:41255751-41257913	GM12878	blood:	n/a	n/a
35	GTF2B	chr19:41256752-41257269	K562	blood:	n/a	n/a
36	POLR2A	chr19:41255546-41257864	HCT-116	colon:	n/a	n/a
37	MAX	chr19:41256223-41257862	H1-hESC	embryonic stem cell:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
38	CHD2	chr19:41256174-41257860	K562	blood:	n/a	n/a
39	USF1	chr19:41256902-41257311	ECC-1	luminal epithelium:	n/a	n/a
40	BRCA1	chr19:41256229-41257341	HepG2	liver:	n/a	n/a
41	E2F4	chr19:41256044-41257453	MCF10A-Er-Src	breast:	n/a	chr19:41256643-41256654 chr19:41256760-41256770 chr19:41256736-41256745 chr19:41256721-41256736 chr19:41256805-41256815 chr19:41256721-41256736
42	POLR2A	chr19:41255259-41257957	HL-60	blood:	n/a	n/a
43	POLR2A	chr19:41255355-41257801	NB4	blood:	n/a	n/a
44	ZBTB33	chr19:41256747-41257386	HCT-116	colon:	n/a	chr19:41257090-41257105 chr19:41257098-41257107
45	POLR2A	chr19:41255732-41257397	HCT-116	colon:	n/a	n/a
46	BRCA1	chr19:41256169-41257292	H1-hESC	embryonic stem cell:	n/a	n/a
47	TBP	chr19:41255849-41257768	Hela-S3	cervix:	n/a	n/a
48	TBL1XR1	chr19:41255729-41257824	K562	blood:	n/a	n/a
49	POLR2A	chr19:41255536-41257993	Hela-S3	cervix:	n/a	n/a
50	PML	chr19:41255985-41257923	K562	blood:	n/a	chr19:41256771-41256779

No.	Distal block	Cell Line	Cell type
1	chr19:41254487..41259247-chr19:41302579..41309995,18	K562	blood:
2	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
3	chr19:41256674..41257213-chr20:44509559..44510132,2	Hela-S3	cervix:
4	chr11:64655526..64656047-chr19:41256811..41257624,2	HCT-116	colon:
5	chr1:17230852..17231401-chr19:41256499..41257383,2	Hela-S3	cervix:
6	chr19:41219701..41225554-chr19:41255271..41259667,13	K562	blood:
7	chr11:65190254..65190996-chr19:41257060..41258041,2	Hela-S3	cervix:
8	chr19:41253175..41255589-chr19:41255801..41257660,2	MCF-7	breast:
9	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
10	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
11	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
12	chr19:41206945..41208497-chr19:41254996..41257251,2	K562	blood:
13	chr19:41256565..41257275-chr21:34696582..34697135,2	Hela-S3	cervix:
14	chr19:41253829..41256175-chr19:41256460..41259109,2	K562	blood:
15	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
16	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
17	chr1:67895816..67896491-chr19:41256613..41257218,2	Hela-S3	cervix:
18	chr19:41256511..41257371-chr2:86332897..86333795,2	Hela-S3	cervix:
19	chr19:41219350..41226574-chr19:41253922..41258567,22	MCF-7	breast:
20	chr19:41256585..41257400-chrX:47003961..47004547,2	Hela-S3	cervix:
21	chr19:41219701..41226727-chr19:41253156..41258804,17	K562	blood:
22	chr1:168194461..168195352-chr19:41256585..41257216,2	Hela-S3	cervix:
23	chr19:41256649..41257247-chr2:27579653..27580386,2	Hela-S3	cervix:
24	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
25	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
26	chr12:112450574..112451117-chr19:41256663..41257549,2	Hela-S3	cervix:
27	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
28	chr19:41254948..41257942-chr19:41767479..41769277,2	MCF-7	breast:
29	chr19:41219625..41226874-chr19:41252287..41258959,29	MCF-7	breast:
30	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
31	chr19:41256697..41257243-chr4:123747746..123748430,2	Hela-S3	cervix:
32	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
33	chr11:118661571..118662155-chr19:41256440..41257210,2	Hela-S3	cervix:
34	chr19:41253320..41258890-chr19:41311950..41315573,6	MCF-7	breast:

Variant related genes	Relation type
C19orf54	TF binding region
SNRPA	TF binding region
ENSG00000068654	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000138685	Chromatin interaction
ENSG00000115207	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000142166	Chromatin interaction
ENSG00000234072	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000213064	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000198270	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000168612	Chromatin interaction
ENSG00000253069	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000110367	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000142864	Chromatin interaction
ENSG00000132300	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	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1793665	chr19:41249508-41258355	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
4	esv1803061	chr19:41249508-41258355	Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
5	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
6	esv1798663	chr19:41256519-41258355	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
7	esv1799699	chr19:41256519-41258355	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
8	esv16940	chr19:41256551-41257224	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
9	esv1795486	chr19:41256581-41257816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
10	esv1797942	chr19:41256581-41257816	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
11	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 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	chr19:41254600-41259200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:41255400-41258200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:41255400-41258200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:41255400-41258600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:41255400-41258600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:41255600-41258000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:41255600-41258200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41255600-41258600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:41255600-41258800	Active TSS	Gastric	stomach
10	chr19:41255600-41259000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:41255800-41257400	Active TSS	Dnd41	blood
12	chr19:41255800-41258400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:41255800-41258400	Active TSS	Fetal Kidney	kidney
14	chr19:41255800-41258600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:41255800-41258600	Active TSS	Esophagus	oesophagus
16	chr19:41255800-41258600	Active TSS	GM12878-XiMat	blood
17	chr19:41255800-41258800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr19:41255800-41258800	Active TSS	Right Ventricle	heart
19	chr19:41255800-41259000	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr19:41256000-41257600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:41256000-41257600	Active TSS	Brain Substantia Nigra	brain
22	chr19:41256000-41257600	Active TSS	Fetal Muscle Trunk	muscle
23	chr19:41256000-41257600	Active TSS	Placenta Amnion	Placenta Amnion
24	chr19:41256000-41257600	Active TSS	Rectal Smooth Muscle	rectum
25	chr19:41256000-41257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:41256000-41258000	Active TSS	Aorta	Aorta
27	chr19:41256000-41258000	Active TSS	Left Ventricle	heart
28	chr19:41256000-41258000	Active TSS	Spleen	Spleen
29	chr19:41256000-41258200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:41256000-41258200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:41256000-41258200	Active TSS	Liver	Liver
32	chr19:41256000-41258200	Active TSS	Lung	lung
33	chr19:41256000-41258200	Active TSS	Psoas Muscle	Psoas
34	chr19:41256000-41258400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:41256000-41258400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:41256000-41258400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr19:41256000-41258600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:41256000-41258600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:41256000-41258600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr19:41256000-41258600	Active TSS	Ovary	ovary
41	chr19:41256000-41258600	Active TSS	Pancreas	Pancrea
42	chr19:41256000-41258600	Active TSS	HSMM	muscle
43	chr19:41256000-41258800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:41256000-41258800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:41256200-41257200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:41256200-41257200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:41256200-41257200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:41256200-41257200	Active TSS	HepG2	liver
49	chr19:41256200-41257200	Active TSS	K562	blood
50	chr19:41256200-41257400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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