Variant report

Variant	rs11960689
Chromosome Location	chr5:177075417-177075418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10045871	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078930	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10479521	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11545868	0.87[EUR][1000 genomes]
rs12651744	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656594	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28534743	0.81[EUR][1000 genomes]
rs28738071	0.85[EUR][1000 genomes]
rs335487	0.85[EUR][1000 genomes]
rs34705130	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976703	0.89[EUR][1000 genomes]
rs6876792	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747861	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7710333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717102	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720519	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729422	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731640	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9329062	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs968406	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv969021	chr5:177060702-177111251	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177046800-177084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:177047000-177079000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:177047800-177080200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:177048800-177083600	Weak transcription	Fetal Lung	lung
5	chr5:177051800-177080200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:177052000-177083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:177052000-177085600	Weak transcription	Gastric	stomach
8	chr5:177052800-177076400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:177054000-177084600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:177054400-177096000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:177066800-177083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:177067000-177084000	Weak transcription	Dnd41	blood
13	chr5:177067200-177083200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:177068800-177081600	Weak transcription	Ovary	ovary
15	chr5:177068800-177085600	Weak transcription	Lung	lung
16	chr5:177068800-177091800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:177075000-177075600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:177075000-177075600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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