Variant report

Variant	rs28479931
Chromosome Location	chr5:36253379-36253380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36246613..36249603-chr5:36252425..36254009,2	K562	blood:
2	chr5:36240525..36243129-chr5:36251315..36253539,2	MCF-7	breast:
3	chr5:36246768..36250424-chr5:36250842..36254157,3	MCF-7	breast:
4	chr5:36246082..36249098-chr5:36250813..36253857,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152620	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10041692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045424	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10053940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10062736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068981	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069006	0.86[EUR][1000 genomes]
rs10076051	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079910	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10473004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473005	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359244	0.86[EUR][1000 genomes]
rs16902914	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28419346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869632	1.00[EUR][1000 genomes]
rs57141728	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451260	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6872093	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6892189	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9292621	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv881598	chr5:36248752-36382802	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:36251800-36274400	Weak transcription	Brain Anterior Caudate	brain
2	chr5:36252600-36253800	Enhancers	Colon Smooth Muscle	Colon
3	chr5:36252600-36254000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:36252600-36254000	Enhancers	Liver	Liver
5	chr5:36252600-36254000	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:36252600-36254000	Enhancers	HSMMtube	muscle
7	chr5:36252600-36255000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:36252800-36253400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:36252800-36253600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:36252800-36254000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:36252800-36254000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:36252800-36254000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:36252800-36254000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:36253000-36253400	Enhancers	Adipose Nuclei	Adipose
15	chr5:36253000-36253400	Enhancers	Ovary	ovary
16	chr5:36253000-36253400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr5:36253200-36253400	Enhancers	Aorta	Aorta
18	chr5:36253200-36254000	Enhancers	Osteobl	bone

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