Variant report

Variant	rs73931488
Chromosome Location	chr19:41935279-41935280
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41932746-41935432	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:41934284-41935306	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:41935060-41935525	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:41934858-41935410	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:41934917-41935408	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:41935148-41935325	K562	blood:	n/a	n/a
7	POLR2A	chr19:41935276-41935291	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr19:41935122-41935440	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41921214..41925672-chr19:41932377..41935763,4	MCF-7	breast:
2	chr19:41933534..41935688-chr19:42105256..42107275,2	K562	blood:
3	chr19:41903342..41904945-chr19:41934241..41936024,2	MCF-7	breast:
4	chr19:41913241..41916784-chr19:41931234..41935699,5	MCF-7	breast:
5	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
6	chr19:41869689..41871301-chr19:41934522..41938582,3	MCF-7	breast:
7	chr19:41928996..41931842-chr19:41934329..41936851,2	MCF-7	breast:
8	chr19:41901991..41905119-chr19:41933008..41936084,3	MCF-7	breast:
9	chr19:41931962..41935414-chr19:41944317..41947167,6	MCF-7	breast:

No data

Variant related genes	Relation type
B3GNT8	TF binding region
ENSG00000077348	Chromatin interaction
ENSG00000239736	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000268475	Chromatin interaction

rs_ID	r²[population]
rs58959515	1.00[AFR][1000 genomes]
rs60715253	1.00[AFR][1000 genomes]
rs73931484	0.91[AFR][1000 genomes]
rs73931485	0.91[AFR][1000 genomes]
rs73931486	1.00[AFR][1000 genomes]
rs73931491	0.91[AFR][1000 genomes]

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41932000-41935600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:41932400-41936400	Weak transcription	Dnd41	blood
3	chr19:41932600-41936800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:41933200-41938200	Weak transcription	Fetal Kidney	kidney
5	chr19:41933400-41935800	Strong transcription	A549	lung
6	chr19:41933400-41936000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:41933800-41938000	Weak transcription	Psoas Muscle	Psoas
8	chr19:41934000-41935400	Enhancers	Lung	lung
9	chr19:41934000-41936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:41934000-41944800	Weak transcription	Hela-S3	cervix
11	chr19:41934200-41935400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:41934200-41936800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:41934200-41937200	Weak transcription	HepG2	liver
14	chr19:41934200-41937400	Weak transcription	Ovary	ovary
15	chr19:41934200-41937600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:41934200-41938000	Weak transcription	Osteobl	bone
17	chr19:41934200-41938200	Weak transcription	Brain Angular Gyrus	brain
18	chr19:41934400-41935400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:41934400-41935400	Enhancers	Right Ventricle	heart
20	chr19:41934400-41935600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:41934400-41936600	Weak transcription	Brain Anterior Caudate	brain
22	chr19:41934400-41936800	Weak transcription	Pancreas	Pancrea
23	chr19:41934400-41939600	Strong transcription	Brain Germinal Matrix	brain
24	chr19:41934400-41945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:41934600-41935400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:41934600-41935400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:41934600-41935400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr19:41934600-41935400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr19:41934600-41935400	Enhancers	HUVEC	blood vessel
30	chr19:41934600-41935600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:41934600-41935600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:41934600-41935600	Enhancers	Fetal Heart	heart
33	chr19:41934600-41935600	Genic enhancers	Fetal Thymus	thymus
34	chr19:41934600-41935800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr19:41934600-41936400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:41934600-41936600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr19:41934600-41936600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:41934600-41936800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:41934600-41936800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:41934600-41936800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:41934600-41936800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:41934600-41936800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:41934600-41936800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:41934600-41936800	Weak transcription	Gastric	stomach
45	chr19:41934600-41936800	Weak transcription	Right Atrium	heart
46	chr19:41934600-41937000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:41934600-41937000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:41934600-41937000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:41934600-41937400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:41934600-41937400	Weak transcription	NHLF	lung

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