Variant report

Variant	rs245183
Chromosome Location	chr5:127207535-127207536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs122730	0.92[CEU][hapmap]
rs1421750	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs151849	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs151855	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs151879	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151880	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151881	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151882	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151883	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151884	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs151885	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs181746	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245156	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs245158	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs245167	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs245177	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs245178	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245179	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245182	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs245186	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245187	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245191	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245192	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245193	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245194	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245195	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245197	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs245198	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs245199	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs245200	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs245201	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs245221	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs245237	0.86[JPT][hapmap]
rs245310	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs245311	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs245313	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs245314	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245327	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2764766	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs6864687	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127194200-127213800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:127198400-127211600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:127203400-127211400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:127203400-127212000	Weak transcription	Stomach Mucosa	stomach
5	chr5:127204000-127211000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:127205800-127208600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:127206200-127207600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:127206200-127207800	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:127206200-127208400	Enhancers	Right Atrium	heart
10	chr5:127206200-127210000	Enhancers	HUVEC	blood vessel
11	chr5:127206400-127208200	Enhancers	Colon Smooth Muscle	Colon
12	chr5:127206400-127208400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127206600-127207800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:127206600-127207800	Enhancers	Brain Angular Gyrus	brain
15	chr5:127206600-127207800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:127206600-127208200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:127206600-127208200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:127206600-127208200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:127206600-127208400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:127206600-127208400	Enhancers	Right Ventricle	heart
21	chr5:127206600-127208400	Enhancers	HMEC	breast
22	chr5:127206600-127208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:127206600-127208600	Enhancers	NHEK	skin
24	chr5:127206800-127208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:127206800-127208400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:127206800-127211000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:127206800-127211000	Weak transcription	GM12878-XiMat	blood
28	chr5:127206800-127211400	Weak transcription	Placenta	Placenta
29	chr5:127206800-127211400	Weak transcription	Fetal Stomach	stomach
30	chr5:127207000-127208000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:127207000-127208000	Weak transcription	Aorta	Aorta
32	chr5:127207000-127208000	Weak transcription	Ovary	ovary
33	chr5:127207000-127208600	Enhancers	Hela-S3	cervix
34	chr5:127207000-127211400	Weak transcription	Small Intestine	intestine
35	chr5:127207000-127213600	Weak transcription	Gastric	stomach
36	chr5:127207000-127213800	Weak transcription	Left Ventricle	heart
37	chr5:127207200-127207600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr5:127207200-127207600	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:127207200-127207600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:127207200-127207600	Weak transcription	Fetal Lung	lung
41	chr5:127207200-127208400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:127207200-127208400	Enhancers	NHDF-Ad	bronchial
43	chr5:127207200-127208400	Enhancers	Osteobl	bone
44	chr5:127207400-127207600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:127207400-127207800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:127207400-127208000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:127207400-127208200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:127207400-127208200	Weak transcription	Esophagus	oesophagus
49	chr5:127207400-127208400	Enhancers	Adipose Nuclei	Adipose
50	chr5:127207400-127210800	Weak transcription	Stomach Smooth Muscle	stomach

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