Variant report

Variant	rs59527594
Chromosome Location	chr8:50875310-50875311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16914109	0.90[AFR][1000 genomes]
rs16914117	0.85[AFR][1000 genomes]
rs16914122	0.85[AFR][1000 genomes]
rs16914128	0.85[AFR][1000 genomes]
rs16914138	0.83[AFR][1000 genomes]
rs16914140	0.83[AFR][1000 genomes]
rs6981499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989540	0.85[AFR][1000 genomes]
rs6990701	0.90[AFR][1000 genomes]
rs6993629	0.85[AFR][1000 genomes]
rs6999827	0.85[AFR][1000 genomes]
rs7001112	0.90[AFR][1000 genomes]
rs7005049	0.90[AFR][1000 genomes]
rs7012926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7840320	0.85[AFR][1000 genomes]
rs7845905	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34788	chr8:50873247-50965438	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3479183	chr8:50873277-50965062	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1033098	chr8:50873293-50965692	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2757272	chr8:50873293-50968942	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3479184	chr8:50873317-50965027	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479185	chr8:50873317-50965027	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:50870200-50875400	Weak transcription	Fetal Lung	lung
3	chr8:50870400-50875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:50870400-50875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:50872800-50875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:50874400-50876200	Enhancers	Brain Germinal Matrix	brain
7	chr8:50874600-50875600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:50874800-50876000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:50875000-50876000	Enhancers	Fetal Brain Male	brain
10	chr8:50875000-50876000	Enhancers	Fetal Brain Female	brain
11	chr8:50875200-50876000	Enhancers	Cortex derived primary cultured neurospheres	brain

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

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