Variant report

Variant	rs34345
Chromosome Location	chr5:74936003-74936004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10044053	0.82[ASN][1000 genomes]
rs10067641	0.88[ASN][1000 genomes]
rs1051795	0.84[ASN][1000 genomes]
rs13354407	0.83[ASN][1000 genomes]
rs1427924	0.88[ASN][1000 genomes]
rs1863934	0.86[ASN][1000 genomes]
rs1863935	0.86[ASN][1000 genomes]
rs1995267	0.83[ASN][1000 genomes]
rs2287711	0.84[ASN][1000 genomes]
rs253392	0.83[EUR][1000 genomes]
rs253393	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs253407	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs253408	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs253409	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs253413	0.91[ASN][1000 genomes]
rs253415	0.88[ASN][1000 genomes]
rs2878519	0.87[ASN][1000 genomes]
rs2878520	0.87[ASN][1000 genomes]
rs3213801	0.83[ASN][1000 genomes]
rs34340	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34344	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34350	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4045166	0.84[ASN][1000 genomes]
rs4703674	0.83[ASN][1000 genomes]
rs5744575	0.81[ASN][1000 genomes]
rs5744598	0.82[ASN][1000 genomes]
rs5744601	0.82[ASN][1000 genomes]
rs5744621	0.83[ASN][1000 genomes]
rs5744663	0.82[ASN][1000 genomes]
rs5744703	0.83[ASN][1000 genomes]
rs67969809	0.87[ASN][1000 genomes]
rs6861279	0.87[ASN][1000 genomes]
rs6886841	0.87[ASN][1000 genomes]
rs7445415	0.81[ASN][1000 genomes]
rs767676	0.83[ASN][1000 genomes]
rs7706857	0.88[ASN][1000 genomes]
rs7717505	0.88[ASN][1000 genomes]
rs7723531	0.88[ASN][1000 genomes]
rs924452	0.88[ASN][1000 genomes]
rs9332464	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74918400-74944200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:74920200-74936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:74920400-74944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:74931400-74936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:74935400-74936200	Enhancers	HUVEC	blood vessel
7	chr5:74935400-74937200	Enhancers	NHEK	skin
8	chr5:74935600-74937200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:74935800-74937200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:74935800-74937200	Enhancers	HMEC	breast
11	chr5:74936000-74936200	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr5:74936000-74936400	Enhancers	NH-A	brain
13	chr5:74936000-74936600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:74936000-74937000	Enhancers	Osteobl	bone
15	chr5:74936000-74937200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:74936000-74937200	Enhancers	Muscle Satellite Cultured Cells	--

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