Variant report

Variant	rs73931491
Chromosome Location	chr19:41936855-41936856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41936747-41937220	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:41936590-41937028	U87	brain:	n/a	n/a
3	POLR2A	chr19:41936242-41939720	GM12878	blood:	n/a	n/a
4	CTCF	chr19:41936665-41938558	A549	lung:	n/a	n/a
5	POLR2A	chr19:41936847-41938776	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:41936833-41937144	A549	lung:	n/a	n/a
7	POLR2A	chr19:41936733-41937183	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:41936748-41937226	K562	blood:	n/a	n/a
9	POLR2A	chr19:41936755-41936913	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:41936830-41936958	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:41936823-41937169	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:41936749-41937085	GM12891	blood:	n/a	n/a
13	POLR2A	chr19:41936609-41937211	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:41936589-41937558	K562	blood:	n/a	n/a
15	POLR2A	chr19:41936772-41939698	K562	blood:	n/a	n/a
16	POLR2A	chr19:41936609-41939024	K562	blood:	n/a	n/a
17	POLR2A	chr19:41936674-41937048	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:41936804-41937251	HL-60	blood:	n/a	n/a
19	POLR2A	chr19:41936662-41937156	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:41936409-41936885	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:41936816-41937125	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr19:41936850-41937146	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:41936622..41939586-chr19:41947612..41949294,2	K562	blood:
2	chr19:41903978..41906376-chr19:41936347..41938650,2	K562	blood:
3	chr19:41936691..41939385-chr19:41940971..41942681,2	K562	blood:
4	chr19:41858044..41860036-chr19:41936343..41938976,2	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	chr19:41854997..41857882-chr19:41936473..41939434,2	K562	blood:
8	chr19:41935462..41938566-chr19:41944097..41946991,4	MCF-7	breast:
9	chr19:41927679..41929725-chr19:41935505..41937205,2	MCF-7	breast:

No data

Variant related genes	Relation type
B3GNT8	TF binding region
ENSG00000204978	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000123810	Chromatin interaction

rs_ID	r²[population]
rs58959515	0.91[AFR][1000 genomes]
rs60715253	0.91[AFR][1000 genomes]
rs73931484	0.84[AFR][1000 genomes]
rs73931485	0.83[AFR][1000 genomes]
rs73931486	0.91[AFR][1000 genomes]
rs73931488	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	chr19:41933200-41938200	Weak transcription	Fetal Kidney	kidney
2	chr19:41933800-41938000	Weak transcription	Psoas Muscle	Psoas
3	chr19:41934000-41944800	Weak transcription	Hela-S3	cervix
4	chr19:41934200-41937200	Weak transcription	HepG2	liver
5	chr19:41934200-41937400	Weak transcription	Ovary	ovary
6	chr19:41934200-41937600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:41934200-41938000	Weak transcription	Osteobl	bone
8	chr19:41934200-41938200	Weak transcription	Brain Angular Gyrus	brain
9	chr19:41934400-41939600	Strong transcription	Brain Germinal Matrix	brain
10	chr19:41934400-41945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:41934600-41937000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:41934600-41937000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:41934600-41937000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:41934600-41937400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:41934600-41937400	Weak transcription	NHLF	lung
16	chr19:41934600-41937600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:41934600-41937600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:41934600-41938000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:41934600-41938200	Weak transcription	NH-A	brain
20	chr19:41934600-41938200	Weak transcription	NHDF-Ad	bronchial
21	chr19:41934600-41944200	Weak transcription	Fetal Brain Male	brain
22	chr19:41934800-41937000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:41934800-41937000	Weak transcription	Esophagus	oesophagus
24	chr19:41934800-41937200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:41934800-41937200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr19:41934800-41937600	Weak transcription	Fetal Lung	lung
27	chr19:41934800-41937600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:41934800-41938200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:41934800-41939600	Strong transcription	Fetal Brain Female	brain
30	chr19:41934800-41945400	Weak transcription	Small Intestine	intestine
31	chr19:41935000-41937000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:41935000-41937000	Strong transcription	Fetal Muscle Leg	muscle
33	chr19:41935000-41937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr19:41935000-41937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:41935000-41937200	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:41935000-41937600	Weak transcription	HMEC	breast
37	chr19:41935000-41937800	Weak transcription	Aorta	Aorta
38	chr19:41935000-41937800	Weak transcription	Stomach Mucosa	stomach
39	chr19:41935000-41940000	Strong transcription	Fetal Stomach	stomach
40	chr19:41935000-41945000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:41935200-41937000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:41935200-41937000	Weak transcription	Colonic Mucosa	Colon
43	chr19:41935200-41937200	Weak transcription	Primary B cells from cord blood	blood
44	chr19:41935200-41937200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:41935200-41937400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:41935200-41937400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr19:41935200-41938000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:41935200-41938000	Weak transcription	K562	blood
49	chr19:41935400-41937000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:41935400-41937000	Weak transcription	Lung	lung

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