Variant report

Variant	rs34379498
Chromosome Location	chr5:43274750-43274751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43272071..43275298-chr5:43277638..43280213,3	K562	blood:
2	chr5:43273394..43275748-chr5:43280476..43283890,4	MCF-7	breast:
3	chr5:43250825..43252348-chr5:43274259..43276487,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10462049	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10941618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13154319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155023	1.00[AMR][1000 genomes]
rs13155622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13167052	1.00[AMR][1000 genomes]
rs13168456	1.00[AMR][1000 genomes]
rs13169908	1.00[AMR][1000 genomes]
rs13174298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13186439	1.00[AMR][1000 genomes]
rs2086134	0.91[ASN][1000 genomes]
rs2290994	0.80[ASN][1000 genomes]
rs34150414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34497448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34762186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34880892	1.00[AMR][1000 genomes]
rs34965256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35033162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35142013	1.00[AMR][1000 genomes]
rs35350677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35748848	1.00[AMR][1000 genomes]
rs35756093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36062172	1.00[AMR][1000 genomes]
rs36097388	1.00[AMR][1000 genomes]
rs3797152	1.00[AMR][1000 genomes]
rs3806871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71590642	1.00[AMR][1000 genomes]
rs71627597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71627598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71627599	1.00[AMR][1000 genomes]
rs71627600	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71629106	1.00[AMR][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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43246600-43281400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:43270200-43277400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:43271200-43280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:43273000-43275000	Enhancers	GM12878-XiMat	blood
5	chr5:43273600-43279000	Enhancers	Fetal Heart	heart
6	chr5:43273800-43275000	Enhancers	NHEK	skin
7	chr5:43274200-43274800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:43274200-43274800	Enhancers	Stomach Mucosa	stomach
9	chr5:43274200-43275800	Enhancers	Right Ventricle	heart
10	chr5:43274400-43274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:43274400-43274800	Flanking Active TSS	Liver	Liver
12	chr5:43274400-43275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:43274400-43275000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:43274400-43275000	Enhancers	Brain Anterior Caudate	brain
15	chr5:43274400-43275000	Flanking Active TSS	K562	blood
16	chr5:43274400-43275600	Weak transcription	Gastric	stomach
17	chr5:43274400-43287000	Weak transcription	Left Ventricle	heart
18	chr5:43274600-43275000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:43274600-43275000	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:43274600-43279200	Weak transcription	Brain Substantia Nigra	brain
21	chr5:43274600-43285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:43274600-43286800	Weak transcription	Esophagus	oesophagus

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