Variant report

Variant	rs2066580
Chromosome Location	chr13:50670469-50670470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50669944..50672513-chr13:50699393..50701015,2	K562	blood:
2	chr13:50664603..50667692-chr13:50667807..50671409,5	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1056543	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1326121	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853926	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066577	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066578	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066588	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284812	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55937551	0.86[AMR][1000 genomes]
rs56116235	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58584173	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59019111	0.86[AMR][1000 genomes]
rs61623782	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319019	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491507	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73491522	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73491532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494012	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494027	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494029	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494031	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076539	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078710	0.86[AFR][1000 genomes]
rs74078712	0.86[AFR][1000 genomes]
rs74078721	0.86[AMR][1000 genomes]
rs74078724	0.86[AMR][1000 genomes]
rs7986331	0.88[AFR][1000 genomes]
rs7993496	0.86[AFR][1000 genomes]
rs8001223	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][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	chr13:50661400-50672200	Weak transcription	Fetal Intestine Large	intestine
25	chr13:50661800-50671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:50662800-50671800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:50665200-50673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:50665600-50672200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:50666200-50673400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:50666400-50673400	Weak transcription	Fetal Intestine Small	intestine
31	chr13:50666400-50680200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr13:50666400-50680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:50666600-50672200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr13:50666600-50672600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr13:50666600-50672800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:50666600-50673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:50666600-50673400	Weak transcription	Brain Anterior Caudate	brain
38	chr13:50666600-50673400	Weak transcription	Thymus	Thymus
39	chr13:50666600-50680000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr13:50666800-50672200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr13:50666800-50673400	Weak transcription	Liver	Liver
42	chr13:50666800-50673600	Weak transcription	Psoas Muscle	Psoas
43	chr13:50667000-50672400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:50667200-50671400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr13:50667200-50671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:50667400-50671800	Weak transcription	Primary B cells from cord blood	blood
47	chr13:50667400-50672200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr13:50667600-50670800	Weak transcription	Primary T cells from cord blood	blood
49	chr13:50667600-50672600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr13:50667600-50674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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