Variant report

Variant	rs2066588
Chromosome Location	chr13:50695672-50695673
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:50571599..50573670-chr13:50694075..50695912,2	MCF-7	breast:
2	chr13:50693847..50696829-chr13:51484594..51486146,2	K562	blood:
3	chr13:50576641..50578970-chr13:50694354..50696520,2	K562	blood:
4	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
5	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:
6	chr13:50655939..50659738-chr13:50693268..50696085,3	K562	blood:
7	chr13:50648761..50651214-chr13:50695521..50698783,3	K562	blood:
8	chr13:50570763..50573180-chr13:50694091..50695933,2	MCF-7	breast:
9	chr13:50667474..50669475-chr13:50694509..50696055,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1056543	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1326121	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853926	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066560	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066569	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066570	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066578	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066580	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066582	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284812	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284814	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116235	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58584173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59019111	0.93[AMR][1000 genomes]
rs60897215	0.85[AFR][1000 genomes]
rs61623782	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319019	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491507	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73491522	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73491532	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494012	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076539	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078710	0.85[AFR][1000 genomes]
rs74078712	0.85[AFR][1000 genomes]
rs7986331	0.88[AFR][1000 genomes]
rs7993496	0.85[AFR][1000 genomes]
rs7999257	0.81[AMR][1000 genomes]
rs8001223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
2	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
3	chr13:50673800-50697600	Weak transcription	HSMM	muscle
4	chr13:50674000-50697200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:50674000-50697600	Weak transcription	Esophagus	oesophagus
6	chr13:50676800-50695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:50679200-50697200	Weak transcription	NH-A	brain
8	chr13:50681400-50697200	Weak transcription	Fetal Kidney	kidney
9	chr13:50682000-50697200	Weak transcription	NHDF-Ad	bronchial
10	chr13:50682200-50696600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:50682800-50698000	Weak transcription	Ovary	ovary
12	chr13:50689000-50697200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:50689200-50697600	Weak transcription	Fetal Stomach	stomach
14	chr13:50689600-50695800	Weak transcription	Brain Anterior Caudate	brain
15	chr13:50689800-50695800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:50690000-50696000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:50690000-50696200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr13:50690000-50696800	Weak transcription	Stomach Mucosa	stomach
19	chr13:50690000-50697000	Weak transcription	Brain Angular Gyrus	brain
20	chr13:50690000-50698000	Weak transcription	Gastric	stomach
21	chr13:50690200-50696200	Weak transcription	Fetal Brain Female	brain
22	chr13:50690200-50696600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:50690200-50697600	Weak transcription	Aorta	Aorta
24	chr13:50690600-50695800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:50690800-50696600	Weak transcription	Small Intestine	intestine
26	chr13:50691000-50695800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr13:50691000-50695800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:50691000-50695800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:50691000-50696000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:50691000-50696200	Weak transcription	Primary T cells from cord blood	blood
31	chr13:50691400-50695800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr13:50691400-50696800	Weak transcription	Osteobl	bone
33	chr13:50691400-50697000	Weak transcription	HUVEC	blood vessel
34	chr13:50691600-50697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:50692400-50696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:50692600-50696000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:50693000-50695800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr13:50693800-50696200	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr13:50694000-50697400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr13:50694200-50695800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:50694200-50696000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr13:50694200-50696000	Weak transcription	Brain Substantia Nigra	brain
43	chr13:50694200-50696000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr13:50694200-50696400	Weak transcription	HepG2	liver
45	chr13:50694200-50696600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:50694400-50696200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:50694400-50696800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr13:50694400-50697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:50694400-50697200	Weak transcription	NHLF	lung
50	chr13:50694600-50697400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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