Variant report

Variant	rs2681549
Chromosome Location	chr8:61048614-61048615
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:60964273..60965332-chr8:61048344..61049285,8	MCF-7	breast:
2	chr8:61044485..61046033-chr8:61048378..61050014,2	K562	blood:
3	chr8:60964347..60964915-chr8:61048286..61049253,3	MCF-7	breast:
4	chr8:60964385..60967219-chr8:61047081..61049350,2	K562	blood:
5	chr8:61048584..61049134-chr8:61309284..61310024,2	MCF-7	breast:
6	chr8:59633961..59634491-chr8:61048448..61049320,2	K562	blood:
7	chr8:60964406..60965411-chr8:61048384..61049349,5	K562	blood:
8	chr8:60974932..60975769-chr8:61048401..61049202,3	MCF-7	breast:

No data

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2611368	0.83[ASN][1000 genomes]
rs2611369	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2681549	TOX	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61043000-61049000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:61046800-61049200	Enhancers	Colon Smooth Muscle	Colon
3	chr8:61047800-61048800	Enhancers	Fetal Brain Male	brain
4	chr8:61047800-61049200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:61048200-61048800	Enhancers	Fetal Lung	lung
6	chr8:61048200-61049200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:61048400-61048800	Enhancers	Primary B cells from cord blood	blood
8	chr8:61048400-61049800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:61048600-61048800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:61048600-61048800	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr8:61048600-61048800	Enhancers	Brain Germinal Matrix	brain
12	chr8:61048600-61048800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:61048600-61049000	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:61048600-61049000	Active TSS	Osteobl	bone
15	chr8:61048600-61049200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:61048600-61049200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61048600-61049200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:61048600-61049200	Enhancers	Brain Hippocampus Middle	brain
19	chr8:61048600-61049200	Enhancers	Fetal Stomach	stomach
20	chr8:61048600-61049200	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr8:61048600-61049200	Active TSS	Stomach Smooth Muscle	stomach
22	chr8:61048600-61049200	Enhancers	NH-A	brain
23	chr8:61048600-61049400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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