Variant report

Variant	rs145908681
Chromosome Location	chr19:19754628-19754629
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	CTCF	chr19:19754547-19755047	H1-hESC	embryonic stem cell:	n/a	chr19:19754825-19754838 chr19:19754818-19754839 chr19:19754829-19754838 chr19:19754824-19754840 chr19:19754826-19754836 chr19:19754823-19754841 chr19:19754825-19754838
16	MYC	chr19:19753633-19754974	K562	blood:	n/a	chr19:19754681-19754691
17	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
18	RAD21	chr19:19754611-19755011	GM12878	blood:	n/a	chr19:19754824-19754837 chr19:19754825-19754835 chr19:19754963-19754976 chr19:19754821-19754840
19	POLR2A	chr19:19754184-19754668	A549	lung:	n/a	n/a
20	SIN3AK20	chr19:19754293-19754933	K562	blood:	n/a	n/a
21	MAX	chr19:19754227-19754954	ECC-1	luminal epithelium:	n/a	chr19:19754681-19754691
22	POLR2A	chr19:19754235-19754976	K562	blood:	n/a	n/a
23	HDAC2	chr19:19754507-19754873	K562	blood:	n/a	n/a
24	YY1	chr19:19754244-19755037	HepG2	liver:	n/a	chr19:19754388-19754402
25	POLR2A	chr19:19753885-19755011	K562	blood:	n/a	n/a
26	RAD21	chr19:19754457-19755029	H1-hESC	embryonic stem cell:	n/a	chr19:19754824-19754837 chr19:19754825-19754835 chr19:19754963-19754976 chr19:19754821-19754840
27	YY1	chr19:19753896-19754928	GM12892	blood:	n/a	chr19:19754388-19754402 chr19:19753922-19753933
28	ZBTB7A	chr19:19754177-19755004	K562	blood:	n/a	chr19:19754561-19754569 chr19:19754824-19754833 chr19:19754909-19754916
29	POLR2A	chr19:19753227-19755267	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:19753481-19754833	GM10847	blood:	n/a	n/a
31	RAD21	chr19:19754495-19755112	A549	lung:	n/a	chr19:19754824-19754837 chr19:19754825-19754835 chr19:19754963-19754976 chr19:19754821-19754840
32	PAX5	chr19:19754358-19754919	GM12878	blood:	n/a	n/a
33	ATF2	chr19:19754076-19754722	GM12878	blood:	n/a	n/a
34	NR2F2	chr19:19754531-19755041	K562	blood:	n/a	n/a
35	ZBTB7A	chr19:19753864-19755188	ECC-1	luminal epithelium:	n/a	chr19:19754561-19754569 chr19:19754824-19754833 chr19:19754909-19754916
36	JUND	chr19:19754471-19754979	K562	blood:	n/a	n/a
37	ZBTB7A	chr19:19754453-19754643	HepG2	liver:	n/a	chr19:19754561-19754569
38	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
39	POLR2A	chr19:19753342-19755089	GM19193	blood:	n/a	n/a
40	TCF3	chr19:19754091-19754949	GM12878	blood:	n/a	chr19:19754710-19754723
41	CTCF	chr19:19754524-19755037	K562	blood:	n/a	chr19:19754825-19754838 chr19:19754818-19754839 chr19:19754829-19754838 chr19:19754824-19754840 chr19:19754826-19754836 chr19:19754823-19754841 chr19:19754825-19754838
42	CHD2	chr19:19754616-19754744	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	MAZ	chr19:19754526-19754726	HepG2	liver:	n/a	chr19:19754681-19754691
46	TAF1	chr19:19754243-19754633	GM12878	blood:	n/a	n/a
47	YY1	chr19:19754199-19754977	GM12878	blood:	n/a	chr19:19754388-19754402
48	ZEB1	chr19:19754285-19755052	GM12878	blood:	n/a	n/a
49	EP300	chr19:19753911-19754866	GM12878	blood:	n/a	n/a
50	CTCF	chr19:19754583-19754934	H1-hESC	embryonic stem cell:	n/a	chr19:19754825-19754838 chr19:19754818-19754839 chr19:19754829-19754838 chr19:19754824-19754840 chr19:19754826-19754836 chr19:19754823-19754841 chr19:19754825-19754838

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19754582-19754632	HUVEC	blood vessel:	n/a
2	chr19:19754582-19754632	NB4	blood:	n/a
3	chr19:19754582-19754632	HL-60	blood:	n/a
4	chr19:19754582-19754632	PrEC	prostate:	n/a
5	chr19:19754582-19754632	SAEC	small airway:	n/a
6	chr19:19754582-19754632	ECC-1	luminal epithelium:	n/a
7	chr19:19754582-19754632	GM06990	blood:	n/a
8	chr19:19754582-19754632	GM12878	blood:	n/a
9	chr19:19754582-19754632	GM19239	blood:	n/a
10	chr19:19754582-19754632	IMR90	lung:	fetal
11	chr19:19754582-19754632	SK-N-SH_RA	brain:	n/a
12	chr19:19754582-19754632	AG04450	lung:	fetal
13	chr19:19754582-19754632	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:19754582-19754632	Jurkat	blood:	n/a
15	chr19:19754582-19754632	PFSK-1	brain:	n/a
16	chr19:19754582-19754632	GM12891	blood:	n/a
17	chr19:19754582-19754632	LNCaP	prostate:	n/a
18	chr19:19754582-19754632	HEK293	kidney:	embryo
19	chr19:19754582-19754632	AG09309	skin:	n/a
20	chr19:19754582-19754632	ProgFib	skin:	n/a
21	chr19:19754582-19754632	SK-N-MC	brain:	n/a
22	chr19:19754582-19754632	A549	lung:	n/a
23	chr19:19754582-19754632	AoSMC	blood vessel:	n/a
24	chr19:19754582-19754632	NT2-D1	testis:	n/a
25	chr19:19754582-19754632	BJ	skin:	n/a
26	chr19:19754582-19754632	NH-A	brain:	n/a
27	chr19:19754582-19754632	HEEpiC	esophagus:	n/a
28	chr19:19754582-19754632	Hepatocyte	liver:	n/a
29	chr19:19754582-19754632	HCF	heart:	n/a
30	chr19:19754582-19754632	T-47D	breast:	n/a
31	chr19:19754582-19754632	H1-hESC	embryonic stem cell:	embryo
32	chr19:19754582-19754632	HNPCEpiC	eye:	n/a
33	chr19:19754582-19754632	PANC-1	pancreas:	n/a
34	chr19:19754582-19754632	SK-N-SH	brain:	n/a
35	chr19:19754582-19754632	HAEpiC	amniotic membrane:	n/a
36	chr19:19754582-19754632	HRCEpiC	kidney:	n/a
37	chr19:19754582-19754632	AG04449	skin:	fetal
38	chr19:19754582-19754632	HMEC	breast:	n/a
39	chr19:19754582-19754632	AG09319	gingival:	n/a
40	chr19:19754582-19754632	K562	blood:	n/a
41	chr19:19754582-19754632	ovcar-3	ovarian:	n/a
42	chr19:19754582-19754632	CMK	blood:	n/a
43	chr19:19754582-19754632	HRPEpiC	eye:	n/a
44	chr19:19754582-19754632	MCF-7	breast:	n/a
45	chr19:19754582-19754632	MCF10A-Er-Src	breast:	n/a
46	chr19:19754582-19754632	RPTEC	kidney:	n/a
47	chr19:19754582-19754632	HCT-116	colon:	n/a
48	chr19:19754582-19754632	SKMC	muscle:	n/a
49	chr19:19754582-19754632	AG10803	skin:	n/a
50	chr19:19754582-19754632	HRE	kidney:	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	chr19:19635157..19637400-chr19:19754505..19756149,2	K562	blood:
15	chr19:19754487..19757148-chr19:19764604..19766993,2	K562	blood:
16	chr19:19637478..19643205-chr19:19752988..19755970,5	MCF-7	breast:
17	chr19:19650697..19653588-chr19:19753029..19754860,3	K562	blood:
18	chr19:19746514..19749043-chr19:19754284..19756520,2	MCF-7	breast:

Variant related genes	Relation type
GMIP	TF binding region
GMIP	CpG island
ENSG00000250067	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000064547	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000186010	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	chr19:19753200-19754800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:19753200-19754800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19753200-19754800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr19:19753200-19754800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:19753200-19754800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:19753200-19754800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr19:19753200-19754800	Active TSS	Esophagus	oesophagus
8	chr19:19753200-19754800	Active TSS	Rectal Smooth Muscle	rectum
9	chr19:19753200-19755000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr19:19753400-19754800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:19753400-19754800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr19:19753400-19754800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:19753400-19754800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:19753400-19754800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:19753400-19754800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr19:19753400-19754800	Flanking Active TSS	Placenta	Placenta
17	chr19:19753400-19754800	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr19:19753400-19754800	Active TSS	A549	lung
19	chr19:19753400-19754800	Active TSS	HSMMtube	muscle
20	chr19:19753400-19754800	Active TSS	K562	blood
21	chr19:19753400-19755000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:19753400-19755000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr19:19753600-19754800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:19753600-19754800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:19753600-19754800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
26	chr19:19753600-19754800	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr19:19753600-19754800	Flanking Active TSS	Liver	Liver
28	chr19:19753600-19754800	Active TSS	Colon Smooth Muscle	Colon
29	chr19:19753600-19754800	Active TSS	Fetal Intestine Large	intestine
30	chr19:19753600-19754800	Active TSS	Fetal Kidney	kidney
31	chr19:19753600-19754800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:19753600-19754800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr19:19753600-19754800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr19:19753600-19755000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr19:19753600-19755000	Active TSS	Fetal Brain Female	brain
36	chr19:19753800-19754800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:19753800-19754800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:19753800-19754800	Active TSS	Primary T cells from cord blood	blood
39	chr19:19753800-19754800	Active TSS	Aorta	Aorta
40	chr19:19753800-19754800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr19:19753800-19754800	Active TSS	Fetal Lung	lung
42	chr19:19753800-19754800	Active TSS	Ovary	ovary
43	chr19:19753800-19754800	Active TSS	Stomach Mucosa	stomach
44	chr19:19753800-19755000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr19:19753800-19755000	Active TSS	Hela-S3	cervix
46	chr19:19753800-19755000	Active TSS	HepG2	liver
47	chr19:19754000-19754800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr19:19754000-19754800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:19754000-19754800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:19754000-19754800	Active TSS	Duodenum Mucosa	Duodenum

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