Variant report

Variant	rs299222
Chromosome Location	chr5:118385691-118385692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10052879	1.00[JPT][hapmap]
rs10064311	1.00[JPT][hapmap]
rs10071407	1.00[JPT][hapmap]
rs10477584	1.00[CHB][hapmap]
rs10900727	1.00[JPT][hapmap]
rs1394629	1.00[JPT][hapmap]
rs299192	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs299194	0.89[ASW][hapmap];0.81[CEU][hapmap];0.81[MEX][hapmap];0.88[MKK][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes]
rs299220	0.95[AFR][1000 genomes]
rs299223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4286709	1.00[JPT][hapmap]
rs4380699	1.00[JPT][hapmap]
rs4583917	1.00[JPT][hapmap]
rs4895185	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6595174	1.00[JPT][hapmap]
rs6595178	1.00[JPT][hapmap]
rs6880622	1.00[JPT][hapmap]
rs6889308	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6893733	1.00[JPT][hapmap]
rs6894997	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7702867	1.00[JPT][hapmap]
rs7720231	1.00[JPT][hapmap]
rs7734532	1.00[JPT][hapmap]
rs7736400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9327087	0.83[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118384200-118386600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:118384200-118386600	Enhancers	Adipose Nuclei	Adipose
3	chr5:118384400-118386600	Enhancers	HSMMtube	muscle
4	chr5:118384600-118390600	Weak transcription	Placenta	Placenta
5	chr5:118384800-118386600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:118384800-118386600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:118385000-118386000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:118385000-118386600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:118385000-118387000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:118385000-118387000	Enhancers	HepG2	liver
11	chr5:118385200-118385800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:118385200-118386000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:118385200-118386200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:118385200-118386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:118385200-118386600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:118385400-118386000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:118385600-118385800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:118385600-118386000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:118385600-118386000	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:118385600-118386000	Enhancers	HMEC	breast
21	chr5:118385600-118386200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:118385600-118386400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:118385600-118387000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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