Variant report

Variant	rs564715727
Chromosome Location	chr13:52025069-52025070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:52024952-52025094	MCF-7	breast:	n/a	n/a
2	POLR2A	chr13:52023042-52028956	GM12878	blood:	n/a	n/a
3	CHD1	chr13:52024742-52028646	IMR90	lung:	n/a	n/a
4	POLR2A	chr13:52024109-52028486	GM18505	blood:	n/a	n/a
5	POLR2A	chr13:52023653-52028418	HepG2	liver:	n/a	n/a
6	POLR2A	chr13:52025046-52025131	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr13:52024356-52028620	GM12878	blood:	n/a	n/a
8	POLR2A	chr13:52024960-52027314	K562	blood:	n/a	n/a
9	POLR2A	chr13:52024349-52028618	GM12878	blood:	n/a	n/a
10	MXI1	chr13:52024891-52028769	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr13:52022300-52029025	GM12878	blood:	n/a	n/a
12	POLR2A	chr13:52023377-52029022	IMR90	lung:	n/a	n/a
13	POLR2A	chr13:52023273-52029011	GM12891	blood:	n/a	n/a
14	POLR2A	chr13:52022966-52025095	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52022728..52028464-chr13:52376436..52381467,17	K562	blood:
2	chr13:52023047..52029598-chr13:52376243..52380914,21	K562	blood:
3	chr13:52022475..52029228-chr13:52156654..52162250,29	K562	blood:
4	chr13:51933288..51938259-chr13:52024808..52026901,4	K562	blood:
5	chr13:52022170..52025698-chr13:52211557..52214174,3	MCF-7	breast:
6	chr13:52024953..52028665-chr13:52311565..52316008,5	MCF-7	breast:
7	chr13:52024267..52031024-chr13:52038927..52044194,9	MCF-7	breast:
8	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
9	chr13:52023587..52026212-chr20:45985508..45987866,2	MCF-7	breast:
10	chr13:52022285..52029211-chr13:52148229..52167071,88	MCF-7	breast:
11	chr13:51994030..51996463-chr13:52024763..52027853,3	MCF-7	breast:
12	chr13:52025027..52027980-chr2:128047526..128049328,2	MCF-7	breast:
13	chr13:52024284..52029908-chr13:52069886..52073128,6	K562	blood:
14	chr13:52024964..52027210-chr3:57581929..57583601,2	MCF-7	breast:
15	chr13:52023038..52025684-chr13:52169375..52171570,2	K562	blood:
16	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:
17	chr13:52022276..52028052-chr13:52350866..52359408,15	MCF-7	breast:
18	chr13:52023374..52025771-chr13:52171326..52173571,2	MCF-7	breast:
19	chr13:52024743..52028940-chr13:52112359..52118516,11	MCF-7	breast:
20	chr13:52024180..52026043-chr13:52139073..52141757,2	K562	blood:
21	chr13:52023359..52028039-chr13:52370142..52379804,19	MCF-7	breast:
22	chr13:51970484..51973482-chr13:52022310..52025240,2	K562	blood:
23	chr13:52015950..52029988-chr13:52150583..52166755,85	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	INTS6	hsa-miR-1	chr13:52025055-52025076

Variant related genes	Relation type
INTS6-AS1	TF binding region
RPS4XP16	TF binding region
ENSG00000231856	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000252141	Chromatin interaction
ENSG00000168374	Chromatin interaction
ENSG00000206920	Chromatin interaction
ENSG00000139668	Chromatin interaction
ENSG00000163161	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000272146	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000229906	Chromatin interaction
ENSG00000269965	Chromatin interaction
ENSG00000243900	Chromatin interaction
ENSG00000270101	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000224451	Chromatin interaction
INTS6	miRNA target site

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3421830	chr13:52024776-52027324	Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51950000-52025200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr13:51992400-52025400	Weak transcription	Esophagus	oesophagus
3	chr13:51995600-52025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:51997000-52025200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:52000600-52025200	Weak transcription	Small Intestine	intestine
6	chr13:52004600-52025200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:52012200-52025400	Weak transcription	Left Ventricle	heart
8	chr13:52013600-52025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:52016800-52025200	Weak transcription	Psoas Muscle	Psoas
10	chr13:52017000-52025400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:52018800-52025200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:52019600-52025400	Weak transcription	Fetal Brain Male	brain
13	chr13:52020600-52025200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:52022600-52025200	Strong transcription	Placenta	Placenta
15	chr13:52023000-52025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:52023200-52025200	Genic enhancers	Primary B cells from cord blood	blood
17	chr13:52023200-52025200	Genic enhancers	Primary hematopoietic stem cells	blood
18	chr13:52023200-52025200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:52023400-52025200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:52023400-52025200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr13:52023400-52025200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr13:52023400-52025200	Enhancers	Colon Smooth Muscle	Colon
23	chr13:52023600-52025200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:52023600-52025200	Genic enhancers	Liver	Liver
25	chr13:52023600-52025400	Weak transcription	Pancreas	Pancrea
26	chr13:52023800-52025200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr13:52023800-52025400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:52023800-52025600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:52024000-52025200	Genic enhancers	Brain Anterior Caudate	brain
30	chr13:52024000-52025200	Genic enhancers	Brain Hippocampus Middle	brain
31	chr13:52024200-52025600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr13:52024200-52025600	Enhancers	Fetal Heart	heart
33	chr13:52024400-52025200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr13:52024400-52025200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:52024400-52025200	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:52024400-52025200	Enhancers	Fetal Intestine Small	intestine
37	chr13:52024400-52025200	Enhancers	HSMMtube	muscle
38	chr13:52024400-52028200	Active TSS	Thymus	Thymus
39	chr13:52024600-52025200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:52024600-52025200	Genic enhancers	Brain Angular Gyrus	brain
41	chr13:52024600-52025200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:52024600-52025200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr13:52024600-52025200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr13:52024600-52025200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr13:52024600-52025200	Genic enhancers	NH-A	brain
46	chr13:52024600-52025200	Genic enhancers	NHDF-Ad	bronchial
47	chr13:52024600-52025400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
48	chr13:52024600-52025600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr13:52024600-52025600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
50	chr13:52024600-52025600	Transcr. at gene 5' and 3'	HepG2	liver

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