Variant report

Variant	rs181793700
Chromosome Location	chr19:19754489-19754490
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	ZBTB7A	chr19:19753786-19755042	ECC-1	luminal epithelium:	n/a	chr19:19754561-19754569 chr19:19754824-19754833 chr19:19754909-19754916
2	POLR2A	chr19:19754289-19754642	HUVEC	blood vessel:	n/a	n/a
3	ELF1	chr19:19753852-19754702	K562	blood:	n/a	chr19:19754073-19754084
4	EBF1	chr19:19754395-19755131	GM12878	blood:	n/a	chr19:19754730-19754741
5	CHD2	chr19:19753846-19754854	Hela-S3	cervix:	n/a	n/a
6	EBF1	chr19:19754405-19754951	GM12878	blood:	n/a	chr19:19754730-19754741
7	POLR2A	chr19:19753278-19754851	GM12891	blood:	n/a	n/a
8	EGR1	chr19:19754223-19754716	H1-hESC	embryonic stem cell:	n/a	chr19:19754678-19754691 chr19:19754474-19754484 chr19:19754427-19754441 chr19:19754472-19754487 chr19:19754488-19754502 chr19:19754473-19754486 chr19:19754474-19754483 chr19:19754474-19754484 chr19:19754473-19754486 chr19:19754474-19754485 chr19:19754492-19754501 chr19:19754472-19754486 chr19:19754657-19754681 chr19:19754468-19754490 chr19:19754486-19754508 chr19:19754473-19754486 chr19:19754473-19754486 chr19:19754470-19754484
9	POLR2A	chr19:19753077-19755139	GM12892	blood:	n/a	n/a
10	YY1	chr19:19754067-19754972	GM12878	blood:	n/a	chr19:19754388-19754402
11	EP300	chr19:19754223-19754923	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:19753079-19755081	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:19754103-19754959	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr19:19753250-19755040	GM18951	blood:	n/a	n/a
15	MYC	chr19:19753633-19754974	K562	blood:	n/a	chr19:19754681-19754691
16	EGR1	chr19:19754369-19754638	K562	blood:	n/a	chr19:19754474-19754484 chr19:19754427-19754441 chr19:19754472-19754487 chr19:19754488-19754502 chr19:19754473-19754486 chr19:19754474-19754483 chr19:19754474-19754484 chr19:19754473-19754486 chr19:19754474-19754485 chr19:19754492-19754501 chr19:19754472-19754486 chr19:19754468-19754490 chr19:19754486-19754508 chr19:19754473-19754486 chr19:19754473-19754486 chr19:19754470-19754484
17	POLR2A	chr19:19754184-19754668	A549	lung:	n/a	n/a
18	SIN3AK20	chr19:19754293-19754933	K562	blood:	n/a	n/a
19	MAX	chr19:19754227-19754954	ECC-1	luminal epithelium:	n/a	chr19:19754681-19754691
20	POLR2A	chr19:19754235-19754976	K562	blood:	n/a	n/a
21	YY1	chr19:19754244-19755037	HepG2	liver:	n/a	chr19:19754388-19754402
22	POLR2A	chr19:19753885-19755011	K562	blood:	n/a	n/a
23	CTCF	chr19:19754388-19754598	Spleen_OC	spleen:	n/a	n/a
24	RAD21	chr19:19754457-19755029	H1-hESC	embryonic stem cell:	n/a	chr19:19754824-19754837 chr19:19754825-19754835 chr19:19754963-19754976 chr19:19754821-19754840
25	YY1	chr19:19753896-19754928	GM12892	blood:	n/a	chr19:19754388-19754402 chr19:19753922-19753933
26	ZBTB7A	chr19:19754177-19755004	K562	blood:	n/a	chr19:19754561-19754569 chr19:19754824-19754833 chr19:19754909-19754916
27	POLR2A	chr19:19753227-19755267	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:19753481-19754833	GM10847	blood:	n/a	n/a
29	ELF1	chr19:19754318-19754622	HepG2	liver:	n/a	n/a
30	PAX5	chr19:19754358-19754919	GM12878	blood:	n/a	n/a
31	ATF2	chr19:19754076-19754722	GM12878	blood:	n/a	n/a
32	PAX5	chr19:19754366-19754556	GM12878	blood:	n/a	n/a
33	ZBTB7A	chr19:19753864-19755188	ECC-1	luminal epithelium:	n/a	chr19:19754561-19754569 chr19:19754824-19754833 chr19:19754909-19754916
34	JUND	chr19:19754471-19754979	K562	blood:	n/a	n/a
35	ZBTB7A	chr19:19754453-19754643	HepG2	liver:	n/a	chr19:19754561-19754569
36	STAT1	chr19:19754309-19754514	GM12878	blood:	n/a	n/a
37	SPI1	chr19:19753416-19754704	HL-60	blood:	n/a	chr19:19754072-19754085 chr19:19754677-19754690 chr19:19753461-19753474 chr19:19754071-19754084 chr19:19753431-19753444 chr19:19754073-19754082 chr19:19754126-19754139
38	POLR2A	chr19:19753342-19755089	GM19193	blood:	n/a	n/a
39	TCF12	chr19:19753972-19754619	GM12878	blood:	n/a	n/a
40	TCF3	chr19:19754091-19754949	GM12878	blood:	n/a	chr19:19754710-19754723
41	YY1	chr19:19754309-19754509	K562	blood:	n/a	chr19:19754388-19754402
42	POLR2A	chr19:19754247-19754607	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:19754024-19754730	Hela-S3	cervix:	n/a	n/a
44	MAX	chr19:19754014-19754986	Hela-S3	cervix:	n/a	chr19:19754681-19754691
45	TAF1	chr19:19754243-19754633	GM12878	blood:	n/a	n/a
46	YY1	chr19:19754199-19754977	GM12878	blood:	n/a	chr19:19754388-19754402
47	ZEB1	chr19:19754285-19755052	GM12878	blood:	n/a	n/a
48	EP300	chr19:19753911-19754866	GM12878	blood:	n/a	n/a
49	RAD21	chr19:19753943-19755106	IMR90	lung:	n/a	chr19:19754824-19754837 chr19:19754825-19754835 chr19:19754963-19754976 chr19:19754821-19754840
50	BCLAF1	chr19:19753880-19755055	GM12878	blood:	n/a	chr19:19754387-19754400

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19754454-19754504	HRE	kidney:	n/a
2	chr19:19754475-19754525	HCT-116	colon:	n/a
3	chr19:19754475-19754525	HUVEC	blood vessel:	n/a
4	chr19:19754475-19754525	AG09319	gingival:	n/a
5	chr19:19754475-19754525	Hela-S3	cervix:	n/a
6	chr19:19754454-19754504	H1-hESC	embryonic stem cell:	embryo
7	chr19:19754454-19754504	HRCEpiC	kidney:	n/a
8	chr19:19754475-19754525	HEEpiC	esophagus:	n/a
9	chr19:19754475-19754525	HIPEpiC	eye:	n/a
10	chr19:19754454-19754504	HEEpiC	esophagus:	n/a
11	chr19:19754475-19754525	NH-A	brain:	n/a
12	chr19:19754475-19754525	RPTEC	kidney:	n/a
13	chr19:19754475-19754525	Jurkat	blood:	n/a
14	chr19:19754454-19754504	HCT-116	colon:	n/a
15	chr19:19754475-19754525	LNCaP	prostate:	n/a
16	chr19:19754475-19754525	SK-N-SH_RA	brain:	n/a
17	chr19:19754475-19754525	PFSK-1	brain:	n/a
18	chr19:19754454-19754504	HIPEpiC	eye:	n/a
19	chr19:19754454-19754504	SK-N-SH	brain:	n/a
20	chr19:19754475-19754525	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:19754454-19754504	HNPCEpiC	eye:	n/a
22	chr19:19754475-19754525	PANC-1	pancreas:	n/a
23	chr19:19754454-19754504	NH-A	brain:	n/a
24	chr19:19754475-19754525	AG09309	skin:	n/a
25	chr19:19754454-19754504	MCF-7	breast:	n/a
26	chr19:19754454-19754504	MCF10A-Er-Src	breast:	n/a
27	chr19:19754454-19754504	HL-60	blood:	n/a
28	chr19:19754454-19754504	NHDF-neo	bronchial:	n/a
29	chr19:19754454-19754504	GM12878	blood:	n/a
30	chr19:19754454-19754504	ovcar-3	ovarian:	n/a
31	chr19:19754475-19754525	PrEC	prostate:	n/a
32	chr19:19754475-19754525	ECC-1	luminal epithelium:	n/a
33	chr19:19754475-19754525	H1-hESC	embryonic stem cell:	embryo
34	chr19:19754454-19754504	AG04449	skin:	fetal
35	chr19:19754475-19754525	HNPCEpiC	eye:	n/a
36	chr19:19754475-19754525	IMR90	lung:	fetal
37	chr19:19754454-19754504	HAEpiC	amniotic membrane:	n/a
38	chr19:19754454-19754504	AG09309	skin:	n/a
39	chr19:19754454-19754504	HCF	heart:	n/a
40	chr19:19754454-19754504	HepG2	liver:	n/a
41	chr19:19754454-19754504	IMR90	lung:	fetal
42	chr19:19754475-19754525	NB4	blood:	n/a
43	chr19:19754454-19754504	SK-N-SH_RA	brain:	n/a
44	chr19:19754454-19754504	GM06990	blood:	n/a
45	chr19:19754475-19754525	SK-N-SH	brain:	n/a
46	chr19:19754475-19754525	A549	lung:	n/a
47	chr19:19754475-19754525	Hepatocyte	liver:	n/a
48	chr19:19754475-19754525	HMEC	breast:	n/a
49	chr19:19754475-19754525	HRCEpiC	kidney:	n/a
50	chr19:19754454-19754504	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19751893..19756920-chr19:19758472..19762276,9	K562	blood:
2	chr19:19736821..19742043-chr19:19751528..19755876,8	MCF-7	breast:
3	chr19:19649879..19653588-chr19:19753029..19755939,4	K562	blood:
4	chr19:19751259..19758144-chr19:19770384..19776332,14	K562	blood:
5	chr19:19753162..19754752-chr19:19769276..19770855,2	MCF-7	breast:
6	chr19:19752450..19756333-chr19:19763709..19769200,7	K562	blood:
7	chr19:19753961..19756109-chr19:19770427..19773007,2	MCF-7	breast:
8	chr19:19753534..19755355-chr19:19771479..19774786,3	MCF-7	breast:
9	chr19:19746005..19749139-chr19:19754452..19756751,3	K562	blood:
10	chr19:19751259..19757786-chr19:19771999..19776232,8	K562	blood:
11	chr19:19752883..19756107-chr19:19759212..19764518,8	MCF-7	breast:
12	chr19:19625550..19627956-chr19:19752305..19756076,5	MCF-7	breast:
13	chr19:19752144..19756505-chr19:19773208..19775858,7	MCF-7	breast:
14	chr19:19754487..19757148-chr19:19764604..19766993,2	K562	blood:
15	chr19:19637478..19643205-chr19:19752988..19755970,5	MCF-7	breast:
16	chr19:19650697..19653588-chr19:19753029..19754860,3	K562	blood:
17	chr19:19746514..19749043-chr19:19754284..19756520,2	MCF-7	breast:

Variant related genes	Relation type
GMIP	TF binding region
GMIP	CpG island
ENSG00000064547	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000250067	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000178093	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19753200-19754600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:19753200-19754600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:19753200-19754600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr19:19753200-19754600	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr19:19753200-19754600	Active TSS	NHEK	skin
6	chr19:19753200-19754800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:19753200-19754800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19753200-19754800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr19:19753200-19754800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:19753200-19754800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:19753200-19754800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:19753200-19754800	Active TSS	Esophagus	oesophagus
13	chr19:19753200-19754800	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:19753200-19755000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr19:19753400-19754600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:19753400-19754600	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr19:19753400-19754600	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr19:19753400-19754600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr19:19753400-19754600	Active TSS	GM12878-XiMat	blood
20	chr19:19753400-19754600	Active TSS	HSMM	muscle
21	chr19:19753400-19754600	Active TSS	NHDF-Ad	bronchial
22	chr19:19753400-19754600	Active TSS	Osteobl	bone
23	chr19:19753400-19754800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr19:19753400-19754800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr19:19753400-19754800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr19:19753400-19754800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr19:19753400-19754800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:19753400-19754800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr19:19753400-19754800	Flanking Active TSS	Placenta	Placenta
30	chr19:19753400-19754800	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr19:19753400-19754800	Active TSS	A549	lung
32	chr19:19753400-19754800	Active TSS	HSMMtube	muscle
33	chr19:19753400-19754800	Active TSS	K562	blood
34	chr19:19753400-19755000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:19753400-19755000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr19:19753600-19754600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:19753600-19754600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:19753600-19754600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:19753600-19754600	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr19:19753600-19754600	Active TSS	Primary B cells from peripheral blood	blood
41	chr19:19753600-19754600	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr19:19753600-19754600	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr19:19753600-19754600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:19753600-19754600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr19:19753600-19754600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:19753600-19754600	Active TSS	Gastric	stomach
47	chr19:19753600-19754600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr19:19753600-19754600	Active TSS	Thymus	Thymus
49	chr19:19753600-19754800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr19:19753600-19754800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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