Variant report

Variant	rs528463957
Chromosome Location	chr19:44530871-44530872
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	GABPA	chr19:44530795-44530912	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:44530855-44530893	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:44530788-44530961	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr19:44530782-44530940	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:44530788-44531139	MCF-7	breast:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
6	HEY1	chr19:44530773-44530937	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:44530791-44530967	HepG2	liver:	n/a	n/a
8	FOXA2	chr19:44530846-44531093	HepG2	liver:	n/a	n/a
9	GATA3	chr19:44530833-44531189	MCF-7	breast:	n/a	n/a
10	CEBPB	chr19:44530794-44531205	MCF-7	breast:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
11	CEBPB	chr19:44530829-44531149	HepG2	liver:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
12	POLR2A	chr19:44530854-44530874	K562	blood:	n/a	n/a
13	GATA3	chr19:44530745-44531239	MCF-7	breast:	n/a	n/a
14	CEBPB	chr19:44530832-44531162	Hela-S3	cervix:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
15	HEY1	chr19:44530752-44531084	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:44530776-44530949	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44529555..44531861-chr19:44550598..44553119,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267144	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv961226	chr19:44530539-44531310	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	1 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	chr19:44530200-44531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:44530200-44531200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:44530200-44531200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:44530200-44531200	Weak transcription	Esophagus	oesophagus
5	chr19:44530200-44531200	Weak transcription	Fetal Thymus	thymus
6	chr19:44530200-44531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:44530200-44531600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:44530200-44535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:44530400-44531000	Weak transcription	Primary B cells from cord blood	blood
10	chr19:44530400-44531000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:44530400-44531000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:44530400-44531000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:44530400-44531000	Weak transcription	Fetal Intestine Small	intestine
14	chr19:44530400-44531000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:44530400-44531200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:44530400-44531200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:44530400-44531200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:44530400-44531200	Weak transcription	Placenta	Placenta
19	chr19:44530400-44531200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:44530400-44531200	Enhancers	K562	blood
21	chr19:44530400-44531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:44530400-44531600	Weak transcription	Small Intestine	intestine
23	chr19:44530400-44531800	Weak transcription	Psoas Muscle	Psoas
24	chr19:44530400-44532200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr19:44530400-44536200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:44530600-44531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:44530600-44531000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:44530600-44531000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:44530600-44531000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:44530600-44531000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:44530600-44531000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:44530600-44531000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:44530600-44531000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:44530600-44531000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44530600-44531000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:44530600-44531000	Weak transcription	Primary T cells from cord blood	blood
37	chr19:44530600-44531000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:44530600-44531000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:44530600-44531000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:44530600-44531000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:44530600-44531000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:44530600-44531000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:44530600-44531000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:44530600-44531000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr19:44530600-44531000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:44530600-44531000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:44530600-44531000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:44530600-44531000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:44530600-44531000	Weak transcription	Adipose Nuclei	Adipose
50	chr19:44530600-44531000	Weak transcription	Aorta	Aorta

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