Variant report

Variant	rs2337520
Chromosome Location	chr8:89259226-89259227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10107227	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12550743	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1464279	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1464280	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1519936	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1879200	0.83[AFR][1000 genomes]
rs28904610	1.00[EUR][1000 genomes]
rs6469306	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6982189	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6992279	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010490	1.00[EUR][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	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891170	chr8:89227970-89298199	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89239000-89260800	Weak transcription	Aorta	Aorta
2	chr8:89250000-89259600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:89252600-89264400	Weak transcription	Fetal Heart	heart
4	chr8:89256000-89259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:89256000-89261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:89256600-89259600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:89256800-89260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:89256800-89264400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:89257000-89261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:89257400-89275400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:89257800-89261600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:89258000-89261400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:89258200-89259800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:89258400-89261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:89259200-89259400	Enhancers	Colon Smooth Muscle	Colon
16	chr8:89259200-89259400	Enhancers	Fetal Lung	lung
17	chr8:89259200-89260000	Enhancers	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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