Variant report

Variant	rs61636452
Chromosome Location	chr5:42501443-42501444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10755268	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117110	0.92[EUR][1000 genomes]
rs11738365	0.91[EUR][1000 genomes]
rs11742495	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747975	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748366	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957616	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162973	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396768	0.88[EUR][1000 genomes]
rs1396773	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467049	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509452	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509453	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1509455	0.88[EUR][1000 genomes]
rs1509456	0.88[EUR][1000 genomes]
rs1567374	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605848	0.82[EUR][1000 genomes]
rs1605851	0.92[EUR][1000 genomes]
rs1858136	0.88[EUR][1000 genomes]
rs1858137	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858139	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876788	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876790	0.88[EUR][1000 genomes]
rs1912107	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960498	0.92[EUR][1000 genomes]
rs2036745	0.94[EUR][1000 genomes]
rs2175126	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202883	0.91[EUR][1000 genomes]
rs2221712	0.91[EUR][1000 genomes]
rs2395970	0.92[EUR][1000 genomes]
rs2940912	0.88[EUR][1000 genomes]
rs2940914	0.92[EUR][1000 genomes]
rs2940916	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940917	0.94[EUR][1000 genomes]
rs2940918	0.94[EUR][1000 genomes]
rs2940919	0.89[EUR][1000 genomes]
rs2940920	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940922	0.94[EUR][1000 genomes]
rs2940926	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940929	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940931	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940934	0.92[EUR][1000 genomes]
rs2940935	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940939	0.87[EUR][1000 genomes]
rs2940942	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940943	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972391	1.00[ASN][1000 genomes]
rs2972395	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972400	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972404	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972406	0.89[EUR][1000 genomes]
rs2972407	0.92[EUR][1000 genomes]
rs2972410	0.94[EUR][1000 genomes]
rs2972411	0.94[EUR][1000 genomes]
rs2972412	0.94[EUR][1000 genomes]
rs2972413	0.94[EUR][1000 genomes]
rs2972414	0.88[EUR][1000 genomes]
rs2972415	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972416	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2972417	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972419	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509769	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642376	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866890	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58416991	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58960035	1.00[ASN][1000 genomes]
rs60126365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370642	1.00[ASN][1000 genomes]
rs62370646	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370648	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451614	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876736	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881436	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884737	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7379192	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704355	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728337	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686286	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974051	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42496600-42502200	Enhancers	Liver	Liver
2	chr5:42496800-42503200	Weak transcription	HMEC	breast
3	chr5:42498600-42507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:42498600-42514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:42499200-42503400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:42500200-42503000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42500200-42507600	Weak transcription	Spleen	Spleen
8	chr5:42500400-42504400	Weak transcription	Left Ventricle	heart
9	chr5:42500400-42507600	Weak transcription	Psoas Muscle	Psoas
10	chr5:42500400-42507600	Weak transcription	Right Atrium	heart
11	chr5:42500600-42502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:42500600-42503000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:42500600-42507600	Weak transcription	Aorta	Aorta
14	chr5:42500600-42507600	Weak transcription	Right Ventricle	heart
15	chr5:42500800-42501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:42500800-42503000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:42500800-42503000	Weak transcription	Fetal Lung	lung
18	chr5:42500800-42503000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:42500800-42507600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:42501000-42503000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:42501000-42503000	Weak transcription	Adipose Nuclei	Adipose
22	chr5:42501000-42503000	Weak transcription	Ovary	ovary
23	chr5:42501000-42503000	Weak transcription	NHEK	skin
24	chr5:42501000-42506800	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:42501200-42502200	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links