Variant report

Variant	rs17011345
Chromosome Location	chr4:127551516-127551517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127545018..127547508-chr4:127549655..127552458,2	K562	blood:
2	chr4:127542507..127544867-chr4:127550672..127553414,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10020555	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10025722	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10034810	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10518502	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499157	0.89[ASN][1000 genomes]
rs12500193	0.82[YRI][hapmap]
rs12504225	0.83[AFR][1000 genomes]
rs12505227	0.87[ASN][1000 genomes]
rs12506917	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12508410	0.83[AFR][1000 genomes]
rs12509148	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12510569	0.83[AFR][1000 genomes]
rs12511768	0.83[ASN][1000 genomes]
rs12513097	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1397669	0.80[ASN][1000 genomes]
rs1511134	0.82[ASN][1000 genomes]
rs17258848	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2391078	0.91[ASN][1000 genomes]
rs28607980	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs313061	0.83[ASN][1000 genomes]
rs387921	0.83[ASN][1000 genomes]
rs398578	0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs408880	0.88[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs57953872	0.88[ASN][1000 genomes]
rs58163832	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58292478	0.89[ASN][1000 genomes]
rs60015107	0.91[ASN][1000 genomes]
rs72672061	0.83[AFR][1000 genomes]
rs72672063	0.83[AFR][1000 genomes]
rs72672064	0.83[AFR][1000 genomes]
rs72672096	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72672101	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674423	0.89[ASN][1000 genomes]
rs72674448	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127549000-127551600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:127549000-127553000	Weak transcription	K562	blood
3	chr4:127551200-127551600	Enhancers	Fetal Heart	heart
4	chr4:127551200-127551600	Active TSS	NHDF-Ad	bronchial
5	chr4:127551200-127551800	Enhancers	Colon Smooth Muscle	Colon
6	chr4:127551400-127551600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:127551400-127551600	Active TSS	Fetal Lung	lung
8	chr4:127551400-127551800	Enhancers	Brain Hippocampus Middle	brain
9	chr4:127551400-127551800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr4:127551400-127551800	Flanking Active TSS	Fetal Stomach	stomach
11	chr4:127551400-127551800	Active TSS	Stomach Smooth Muscle	stomach
12	chr4:127551400-127552200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:127551400-127552200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:127551400-127552200	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:127551400-127552200	Enhancers	Right Ventricle	heart

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