Variant report

Variant	rs2066655
Chromosome Location	chr13:50804420-50804421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12870774	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066642	1.00[ASN][1000 genomes]
rs2066645	1.00[ASN][1000 genomes]
rs34859199	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57782545	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71436211	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436213	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv974246	chr13:50798236-50805245	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50800400-50814400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:50801800-50804600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:50802600-50804600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:50802800-50805800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:50802800-50809200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:50803000-50806400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:50803000-50807800	Weak transcription	Fetal Thymus	thymus
8	chr13:50803400-50805200	Enhancers	HepG2	liver
9	chr13:50803800-50805400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:50803800-50805400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr13:50803800-50805600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr13:50804000-50804600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:50804000-50804600	Enhancers	A549	lung
14	chr13:50804000-50804600	Enhancers	NHDF-Ad	bronchial
15	chr13:50804000-50804600	Flanking Active TSS	Osteobl	bone
16	chr13:50804000-50805000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:50804000-50805000	Enhancers	Primary B cells from peripheral blood	blood
18	chr13:50804000-50805000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr13:50804000-50805000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:50804000-50805000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:50804000-50805000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr13:50804000-50805000	Enhancers	HMEC	breast
23	chr13:50804000-50805200	Enhancers	Duodenum Mucosa	Duodenum
24	chr13:50804000-50805200	Enhancers	Small Intestine	intestine
25	chr13:50804200-50804600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:50804200-50804600	Flanking Active TSS	Dnd41	blood
27	chr13:50804200-50804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:50804200-50805000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr13:50804200-50805000	Enhancers	Fetal Intestine Small	intestine
30	chr13:50804200-50805000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr13:50804200-50805000	Enhancers	Hela-S3	cervix
32	chr13:50804200-50805200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:50804200-50805200	Enhancers	Liver	Liver
34	chr13:50804200-50805200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr13:50804200-50805400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:50804400-50804800	Active TSS	Primary B cells from cord blood	blood
37	chr13:50804400-50805200	Enhancers	Fetal Kidney	kidney
38	chr13:50804400-50818600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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