Variant report

Variant	rs9591319
Chromosome Location	chr13:50669767-50669768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50667614..50670151-chr13:50691621..50693862,2	K562	blood:
2	chr13:50664603..50667692-chr13:50667807..50671409,5	K562	blood:
3	chr13:50653359..50656316-chr13:50667600..50670194,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs9316480	1.00[AMR][1000 genomes]
rs9591324	1.00[AMR][1000 genomes]
rs9596217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9596227	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50657200-50673400	Weak transcription	Pancreas	Pancrea
2	chr13:50657400-50673400	Weak transcription	Left Ventricle	heart
3	chr13:50657400-50673400	Weak transcription	HSMM	muscle
4	chr13:50658000-50673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
6	chr13:50658400-50673400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr13:50658600-50673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:50659600-50672600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:50659600-50673000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:50659600-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:50659800-50670800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:50659800-50671200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:50659800-50671600	Weak transcription	HMEC	breast
14	chr13:50659800-50672200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:50659800-50672400	Weak transcription	A549	lung
16	chr13:50659800-50672600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:50659800-50672600	Weak transcription	Fetal Lung	lung
18	chr13:50659800-50672600	Weak transcription	Osteobl	bone
19	chr13:50659800-50673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:50659800-50673400	Weak transcription	NH-A	brain
21	chr13:50659800-50681600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
23	chr13:50660200-50673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:50661400-50670400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:50661400-50672200	Weak transcription	Fetal Intestine Large	intestine
26	chr13:50661800-50671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:50662800-50671800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:50665200-50673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:50665600-50672200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:50666200-50673400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:50666400-50673400	Weak transcription	Fetal Intestine Small	intestine
32	chr13:50666400-50680200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:50666400-50680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:50666600-50672200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr13:50666600-50672600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr13:50666600-50672800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr13:50666600-50673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr13:50666600-50673400	Weak transcription	Brain Anterior Caudate	brain
39	chr13:50666600-50673400	Weak transcription	Thymus	Thymus
40	chr13:50666600-50680000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:50666800-50672200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr13:50666800-50673400	Weak transcription	Liver	Liver
43	chr13:50666800-50673600	Weak transcription	Psoas Muscle	Psoas
44	chr13:50667000-50672400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:50667200-50671400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:50667200-50671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:50667400-50671800	Weak transcription	Primary B cells from cord blood	blood
48	chr13:50667400-50672200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:50667600-50669800	Weak transcription	Fetal Heart	heart
50	chr13:50667600-50670800	Weak transcription	Primary T cells from cord blood	blood

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