Variant report

Variant	rs28399600
Chromosome Location	chr19:45312408-45312409
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	chr19:45312308-45312471	SK-N-SH	brain:	n/a	n/a
2	NR2F2	chr19:45311029-45312611	MCF-7	breast:	n/a	n/a
3	SP1	chr19:45311002-45312446	A549	lung:	n/a	chr19:45311679-45311688 chr19:45311467-45311481 chr19:45311678-45311692 chr19:45311331-45311345 chr19:45311466-45311478 chr19:45311678-45311688 chr19:45311466-45311478
4	TAF1	chr19:45311832-45312541	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:45312261-45312611	MCF-7	breast:	n/a	n/a
6	TCF12	chr19:45311029-45312613	ECC-1	luminal epithelium:	n/a	chr19:45311761-45311769
7	MAZ	chr19:45311056-45313023	IMR90	lung:	n/a	chr19:45311331-45311341
8	SMC3	chr19:45310944-45312433	SK-N-SH	brain:	n/a	chr19:45311372-45311386
9	CEBPD	chr19:45311800-45312626	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:45312303-45312532	Gliobla	brain:	n/a	n/a
11	CHD2	chr19:45311191-45312492	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr19:45311099-45312581	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:45311270-45312616	ECC-1	luminal epithelium:	n/a	n/a
14	HEY1	chr19:45311869-45312620	HepG2	liver:	n/a	chr19:45312129-45312144
15	ZBTB7A	chr19:45311017-45313039	ECC-1	luminal epithelium:	n/a	chr19:45311326-45311337
16	EP300	chr19:45312378-45312547	HepG2	liver:	n/a	n/a
17	TBP	chr19:45311259-45312590	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr19:45311076-45312700	A549	lung:	n/a	chr19:45311331-45311341
19	EP300	chr19:45310984-45312779	ECC-1	luminal epithelium:	n/a	chr19:45312367-45312376
20	POLR2A	chr19:45312118-45312583	HEK293	kidney:	n/a	n/a
21	POLR2A	chr19:45311908-45312544	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr19:45312382-45313017	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr19:45312327-45312664	SK-N-MC	brain:	n/a	n/a
24	TAF1	chr19:45312183-45312524	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr19:45312062-45312697	MCF-7	breast:	n/a	n/a
26	POLR2A	chr19:45312290-45312530	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:45312287-45312582	K562	blood:	n/a	n/a
28	CTCF	chr19:45312340-45312490	AG04449	skin:	n/a	n/a
29	POLR2A	chr19:45312000-45312663	PFSK-1	brain:	n/a	n/a
30	NFIC	chr19:45311253-45312621	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr19:45312284-45312560	HepG2	liver:	n/a	n/a
32	CTCF	chr19:45310852-45312815	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
33	CEBPD	chr19:45312272-45312522	HepG2	liver:	n/a	n/a
34	TAF1	chr19:45311992-45312653	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:45311188-45312660	HCT-116	colon:	n/a	n/a
36	POLR2A	chr19:45312300-45312504	K562	blood:	n/a	n/a
37	YY1	chr19:45311915-45312525	HepG2	liver:	n/a	chr19:45312329-45312340 chr19:45312001-45312015 chr19:45312366-45312375 chr19:45312242-45312256 chr19:45312363-45312374
38	POLR2A	chr19:45311062-45312807	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr19:45311159-45312450	ECC-1	luminal epithelium:	n/a	chr19:45311331-45311341
40	POLR2A	chr19:45312280-45312486	A549	lung:	n/a	n/a
41	TAF1	chr19:45312005-45312488	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:45312030-45312673	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr19:45312287-45312501	A549	lung:	n/a	n/a
44	EP300	chr19:45311928-45312513	ECC-1	luminal epithelium:	n/a	chr19:45312367-45312376
45	POLR2A	chr19:45311112-45313551	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF12	chr19:45310159-45312773	A549	lung:	n/a	chr19:45310284-45310291 chr19:45311761-45311769
47	REST	chr19:45312288-45312499	HepG2	liver:	n/a	n/a
48	PML	chr19:45312302-45312651	MCF-7	breast:	n/a	n/a
49	TCF12	chr19:45311181-45312934	ECC-1	luminal epithelium:	n/a	chr19:45311761-45311769
50	POLR2A	chr19:45312109-45312685	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
2	chr19:45308884..45313334-chr19:45345353..45351688,18	MCF-7	breast:
3	chr19:45308022..45312966-chr19:45346579..45352259,11	MCF-7	breast:
4	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
5	chr19:45311083..45313001-chr19:45347399..45349440,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region
ENSG00000069399	Chromatin interaction
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv912119	chr19:45304307-45317089	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv912120	chr19:45304307-45317469	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv912121	chr19:45304307-45319297	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv579861	chr19:45309972-45314395	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv912123	chr19:45310319-45314395	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv579862	chr19:45310319-45316807	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv912124	chr19:45310319-45318564	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv912125	chr19:45310319-45321841	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv579863	chr19:45310319-45322451	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv912126	chr19:45311523-45317089	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv912127	chr19:45312114-45316807	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv912128	chr19:45312114-45321841	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45311200-45313000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr19:45311400-45312600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:45311400-45312600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:45311400-45312800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:45311400-45312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:45311400-45313000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:45311400-45313600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr19:45311400-45314200	Active TSS	Fetal Kidney	kidney
9	chr19:45311600-45312600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:45311600-45312800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:45311600-45313000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:45311800-45312600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:45311800-45312800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:45311800-45312800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
15	chr19:45311800-45312800	Flanking Active TSS	HMEC	breast
16	chr19:45311800-45313000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr19:45311800-45313000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:45311800-45313000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:45311800-45313000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr19:45311800-45313000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:45311800-45313000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:45311800-45313000	Flanking Active TSS	Colonic Mucosa	Colon
23	chr19:45311800-45313000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr19:45311800-45313000	Flanking Active TSS	Pancreas	Pancrea
25	chr19:45311800-45313000	Flanking Active TSS	HSMM	muscle
26	chr19:45311800-45313200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr19:45311800-45313600	Active TSS	Aorta	Aorta
28	chr19:45311800-45313600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr19:45311800-45313600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr19:45311800-45314200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:45311800-45314400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:45312000-45312600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:45312000-45312600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:45312000-45312600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:45312000-45312600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:45312000-45312600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr19:45312000-45312600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:45312000-45312600	Active TSS	Brain Substantia Nigra	brain
39	chr19:45312000-45312600	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr19:45312000-45312600	Active TSS	HepG2	liver
41	chr19:45312000-45312800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:45312000-45312800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr19:45312000-45312800	Active TSS	Left Ventricle	heart
44	chr19:45312000-45313000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr19:45312000-45313000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr19:45312000-45313000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:45312000-45313000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:45312000-45313200	Active TSS	Fetal Heart	heart
49	chr19:45312000-45313200	Active TSS	Psoas Muscle	Psoas
50	chr19:45312000-45313800	Active TSS	Right Atrium	heart

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