Variant report

Variant	rs55650545
Chromosome Location	chr2:63039469-63039470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13383678	1.00[EUR][1000 genomes]
rs13432479	1.00[EUR][1000 genomes]
rs56738177	1.00[AMR][1000 genomes]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58171425	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs61378194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732313	1.00[EUR][1000 genomes]
rs6732451	1.00[EUR][1000 genomes]
rs6754557	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888969	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890504	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890505	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890506	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7598412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599037	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
2	chr2:63019600-63043400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
4	chr2:63020800-63040200	Weak transcription	Left Ventricle	heart
5	chr2:63022400-63040400	Weak transcription	NHEK	skin
6	chr2:63022400-63041000	Weak transcription	HSMM	muscle
7	chr2:63023800-63049000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:63029600-63040600	Weak transcription	HMEC	breast
10	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
12	chr2:63031600-63040800	Weak transcription	NH-A	brain
13	chr2:63031600-63053800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:63032000-63040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:63033400-63040200	Weak transcription	Esophagus	oesophagus
16	chr2:63033800-63040200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:63033800-63040200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:63033800-63040400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:63033800-63040600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:63033800-63052800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:63033800-63060600	Weak transcription	Aorta	Aorta
22	chr2:63034000-63040200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:63034400-63040000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:63034400-63040200	Weak transcription	A549	lung
25	chr2:63034400-63040400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:63034400-63054000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:63034600-63040000	Weak transcription	Liver	Liver
28	chr2:63035200-63045400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:63035200-63053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:63035400-63040800	Weak transcription	Fetal Intestine Small	intestine
31	chr2:63035400-63041200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:63035800-63040400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:63036000-63041600	Weak transcription	Fetal Kidney	kidney
34	chr2:63036200-63041200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:63036200-63041200	Weak transcription	HUVEC	blood vessel
36	chr2:63036600-63041200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:63037400-63040000	Strong transcription	HepG2	liver
38	chr2:63037800-63040000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:63037800-63040200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:63038000-63040200	Weak transcription	NHDF-Ad	bronchial
41	chr2:63038000-63040600	Weak transcription	NHLF	lung
42	chr2:63038000-63040800	Weak transcription	Osteobl	bone
43	chr2:63038000-63041200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:63038200-63040800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:63038200-63040800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:63038200-63042200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:63038200-63054000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:63038600-63041000	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:63038800-63039600	Flanking Active TSS	Dnd41	blood
50	chr2:63039000-63039800	Flanking Active TSS	GM12878-XiMat	blood

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