Variant report

Variant	rs4484445
Chromosome Location	chr5:42615160-42615161
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10941578	1.00[JPT][hapmap]
rs11948453	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11949751	1.00[JPT][hapmap]
rs12515372	1.00[AFR][1000 genomes]
rs12520276	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12521020	1.00[JPT][hapmap]
rs13160458	0.88[JPT][hapmap]
rs13173465	0.86[ASN][1000 genomes]
rs28943879	1.00[AFR][1000 genomes]
rs4075783	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4242115	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4305645	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4314405	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4489074	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4493680	1.00[JPT][hapmap]
rs4504390	1.00[JPT][hapmap]
rs4533898	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4554233	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4866791	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4866936	1.00[JPT][hapmap]
rs6451626	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6859653	1.00[JPT][hapmap]
rs6887718	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6896667	1.00[JPT][hapmap]
rs7703713	1.00[JPT][hapmap]
rs7721816	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7735889	1.00[JPT][hapmap]
rs9968669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1027023	chr5:42610250-42654999	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42607000-42621000	Weak transcription	Left Ventricle	heart
2	chr5:42610200-42620600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:42610800-42626800	Weak transcription	Pancreas	Pancrea
4	chr5:42611800-42616200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:42612200-42615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:42612400-42615600	Enhancers	NHLF	lung
7	chr5:42612800-42615200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:42612800-42615200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:42612800-42615200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr5:42612800-42615200	Enhancers	Ovary	ovary
11	chr5:42612800-42615200	Enhancers	Osteobl	bone
12	chr5:42612800-42615400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:42612800-42616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:42613200-42615200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:42613600-42615400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:42613600-42616200	Weak transcription	Liver	Liver
17	chr5:42613600-42620000	Weak transcription	HMEC	breast
18	chr5:42614000-42620800	Weak transcription	Fetal Lung	lung
19	chr5:42614200-42615400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:42614200-42617600	Weak transcription	Psoas Muscle	Psoas
21	chr5:42614200-42619400	Weak transcription	Adipose Nuclei	Adipose
22	chr5:42614400-42615200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:42614400-42615200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:42614400-42615600	Enhancers	Aorta	Aorta
25	chr5:42614600-42615200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:42614600-42615200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:42614800-42615200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:42614800-42615200	Enhancers	Colon Smooth Muscle	Colon
29	chr5:42615000-42615200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:42615000-42618600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links