Variant report

Variant	rs10462740
Chromosome Location	chr5:17075414-17075415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10065034	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10068569	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078074	1.00[AMR][1000 genomes]
rs10866519	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4267873	1.00[AMR][1000 genomes]
rs4314398	1.00[AMR][1000 genomes]
rs4327598	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4334884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4348214	1.00[AMR][1000 genomes]
rs4360043	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4461629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4505944	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4583886	1.00[AMR][1000 genomes]
rs4702191	1.00[AMR][1000 genomes]
rs4702200	1.00[AMR][1000 genomes]
rs6554976	1.00[AMR][1000 genomes]
rs6554980	1.00[AMR][1000 genomes]
rs6888500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6894481	1.00[AMR][1000 genomes]
rs7706452	1.00[AMR][1000 genomes]
rs7723573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1027435	chr5:17068441-17095350	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv969212	chr5:17070735-17098476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17068400-17076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:17070600-17076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:17070600-17076000	Weak transcription	Left Ventricle	heart
4	chr5:17070600-17076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:17070600-17079800	Weak transcription	Gastric	stomach
6	chr5:17070600-17080600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:17071000-17075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:17074200-17075800	Enhancers	Stomach Mucosa	stomach
9	chr5:17074400-17077400	Weak transcription	Ovary	ovary
10	chr5:17075000-17076800	Enhancers	Fetal Kidney	kidney
11	chr5:17075000-17079400	Enhancers	HUVEC	blood vessel
12	chr5:17075200-17075600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:17075200-17075800	Enhancers	Fetal Lung	lung
14	chr5:17075400-17075800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:17075400-17077000	Enhancers	NHDF-Ad	bronchial
16	chr5:17075400-17077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:17075400-17078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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