Variant report

Variant	rs277975
Chromosome Location	chr5:70953885-70953886
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs157193	0.81[ASN][1000 genomes]
rs166758	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs169406	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs182191	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277935	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs277952	0.86[CHB][hapmap]
rs277955	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs277982	0.84[AMR][1000 genomes]
rs277983	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs277984	0.85[ASN][1000 genomes]
rs277987	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs277988	0.81[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs277990	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs277991	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs277992	0.81[ASN][1000 genomes]
rs277993	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs277998	0.81[ASN][1000 genomes]
rs282357	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs368462	0.81[ASN][1000 genomes]
rs412766	0.83[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs461690	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv532805	chr5:70916228-71020967	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70898400-70955000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:70919800-70955000	Weak transcription	HUVEC	blood vessel
3	chr5:70926600-70954000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:70927000-70954000	Strong transcription	Dnd41	blood
5	chr5:70927000-70954200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:70935000-70955800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:70936600-70955200	Weak transcription	Fetal Heart	heart
8	chr5:70938400-70954000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:70940800-70954600	Strong transcription	Liver	Liver
10	chr5:70941200-70955000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:70941400-70954200	Strong transcription	Placenta	Placenta
12	chr5:70941400-70954400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr5:70941400-70954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:70941400-70954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:70941400-70954600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:70941600-70954400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr5:70941600-70954600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:70942000-70954400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr5:70942000-70954400	Strong transcription	Adipose Nuclei	Adipose
20	chr5:70942000-70954400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:70942200-70954000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:70942200-70954200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr5:70943200-70955600	Weak transcription	Psoas Muscle	Psoas
24	chr5:70943400-70954400	Weak transcription	Colonic Mucosa	Colon
25	chr5:70943800-70954200	Strong transcription	Ovary	ovary
26	chr5:70944000-70954200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:70944800-70954200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:70945600-70955600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:70946000-70954400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:70946000-70955800	Weak transcription	Osteobl	bone
31	chr5:70946200-70955200	Weak transcription	Right Ventricle	heart
32	chr5:70946200-70956200	Weak transcription	NH-A	brain
33	chr5:70946200-70956400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:70947400-70955600	Weak transcription	NHDF-Ad	bronchial
35	chr5:70947600-70954400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:70947600-70956800	Weak transcription	HMEC	breast
37	chr5:70947800-70954600	Strong transcription	Primary T cells from cord blood	blood
38	chr5:70947800-70956000	Weak transcription	K562	blood
39	chr5:70948800-70954000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:70948800-70955200	Weak transcription	Pancreas	Pancrea
41	chr5:70949200-70954800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:70949200-70956000	Weak transcription	Brain Substantia Nigra	brain
43	chr5:70949200-70958400	Weak transcription	Small Intestine	intestine
44	chr5:70949400-70954400	Weak transcription	HSMMtube	muscle
45	chr5:70949400-70954600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:70949400-70955600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:70949400-70955800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:70949400-70955800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:70949400-70956000	Weak transcription	Fetal Thymus	thymus
50	chr5:70949400-70956200	Weak transcription	NHEK	skin

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