Variant report

Variant	rs6594626
Chromosome Location	chr5:111929739-111929740
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111871115..111873160-chr5:111927827..111929771,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10072039	1.00[AMR][1000 genomes]
rs6421844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6421846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6594606	1.00[AMR][1000 genomes]
rs6594621	1.00[AMR][1000 genomes]
rs7380750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7448454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv20349	chr5:111915807-111944317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111928600-111930800	Enhancers	Fetal Stomach	stomach
2	chr5:111929200-111929800	Enhancers	Brain Germinal Matrix	brain
3	chr5:111929200-111930200	Enhancers	Brain Substantia Nigra	brain
4	chr5:111929200-111930600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:111929400-111929800	Enhancers	Brain Anterior Caudate	brain
6	chr5:111929400-111929800	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:111929400-111930800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:111929400-111932000	Enhancers	Fetal Kidney	kidney
9	chr5:111929600-111929800	Enhancers	Brain Hippocampus Middle	brain
10	chr5:111929600-111929800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr5:111929600-111929800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:111929600-111930000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:111929600-111930000	Enhancers	Liver	Liver
14	chr5:111929600-111930200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr5:111929600-111930200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:111929600-111930200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:111929600-111930400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:111929600-111930400	Enhancers	Fetal Lung	lung
19	chr5:111929600-111930600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:111929600-111930600	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:111929600-111930800	Enhancers	Brain Angular Gyrus	brain
22	chr5:111929600-111930800	Enhancers	Colon Smooth Muscle	Colon
23	chr5:111929600-111931000	Enhancers	Fetal Brain Male	brain
24	chr5:111929600-111932200	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links