Variant report

Variant	rs9596515
Chromosome Location	chr13:52030919-52030920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:52029221-52031973	K562	blood:	n/a	n/a
2	POLR2A	chr13:52030898-52030958	MCF-7	breast:	n/a	n/a
3	POLR2A	chr13:52030897-52030931	HepG2	liver:	n/a	n/a
4	POLR2A	chr13:52030281-52031290	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr13:52030048-52031195	Raji	blood:	n/a	n/a
6	POLR2A	chr13:52030169-52031714	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr13:52030804-52030919	A549	lung:	n/a	n/a
8	POLR2A	chr13:52030826-52031036	Gliobla	brain:	n/a	n/a
9	MYC	chr13:52030820-52030935	MCF-7	breast:	n/a	n/a
10	POLR2A	chr13:52030569-52031135	HL-60	blood:	n/a	n/a
11	POLR2A	chr13:52029509-52031916	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr13:52030613-52031137	MCF-7	breast:	n/a	n/a
13	POLR2A	chr13:52030711-52030957	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52025794..52034237-chr13:52040132..52048046,20	K562	blood:
2	chr13:52024267..52031024-chr13:52038927..52044194,9	MCF-7	breast:
3	chr13:52029332..52032158-chr13:52157074..52159871,2	K562	blood:
4	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:

No data

Variant related genes	Relation type
INTS6	TF binding region
RPS4XP16	TF binding region
ENSG00000139668	Chromatin interaction
ENSG00000243900	Chromatin interaction

rs_ID	r²[population]
rs12323252	1.00[AMR][1000 genomes]
rs55678657	1.00[AMR][1000 genomes]
rs74084824	1.00[AMR][1000 genomes]
rs74084851	1.00[AMR][1000 genomes]
rs74084865	1.00[AMR][1000 genomes]
rs74084870	1.00[AMR][1000 genomes]
rs9285178	1.00[AMR][1000 genomes]
rs9591404	1.00[AMR][1000 genomes]
rs9591406	1.00[AMR][1000 genomes]
rs9596511	1.00[AMR][1000 genomes]
rs9596512	1.00[AMR][1000 genomes]
rs9596514	1.00[AMR][1000 genomes]
rs9596525	1.00[AMR][1000 genomes]

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52028600-52032200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:52028600-52034000	Weak transcription	Aorta	Aorta
3	chr13:52028600-52036000	Weak transcription	HSMMtube	muscle
4	chr13:52028800-52031000	ZNF genes & repeats	Fetal Thymus	thymus
5	chr13:52028800-52031600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr13:52028800-52032000	Weak transcription	Osteobl	bone
7	chr13:52029000-52031000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:52029000-52031400	Weak transcription	Fetal Kidney	kidney
9	chr13:52029000-52031800	Weak transcription	NHDF-Ad	bronchial
10	chr13:52029000-52032600	Weak transcription	NHLF	lung
11	chr13:52029000-52033400	Weak transcription	NHEK	skin
12	chr13:52029000-52034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:52029200-52031000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr13:52029200-52031000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr13:52029200-52031000	Strong transcription	A549	lung
16	chr13:52029200-52031400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:52029400-52031200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:52029600-52031000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:52029600-52031000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:52029600-52031000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:52029600-52031000	ZNF genes & repeats	Liver	Liver
22	chr13:52029600-52031000	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr13:52029600-52031000	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr13:52029600-52031000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr13:52029600-52031000	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr13:52029600-52031000	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr13:52029600-52031000	ZNF genes & repeats	Gastric	stomach
28	chr13:52029600-52031400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:52029600-52031400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:52029600-52031400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:52029600-52031400	Strong transcription	Fetal Stomach	stomach
32	chr13:52029600-52031600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:52029600-52031600	Strong transcription	Ovary	ovary
34	chr13:52029600-52031600	Genic enhancers	Pancreas	Pancrea
35	chr13:52029600-52031600	ZNF genes & repeats	Thymus	Thymus
36	chr13:52029800-52031000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:52029800-52031000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr13:52029800-52031200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:52029800-52031200	Strong transcription	Primary T cells from cord blood	blood
40	chr13:52029800-52031800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:52029800-52032000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr13:52030000-52031000	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr13:52030000-52031000	ZNF genes & repeats	Fetal Brain Female	brain
44	chr13:52030000-52031200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:52030000-52031400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr13:52030000-52031400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr13:52030200-52031000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:52030200-52031000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:52030200-52031000	ZNF genes & repeats	Esophagus	oesophagus
50	chr13:52030200-52031000	ZNF genes & repeats	Left Ventricle	heart

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