Variant report

Variant	rs318892
Chromosome Location	chr8:50872860-50872861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs318891	0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318896	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318898	1.00[AMR][1000 genomes]
rs318899	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318901	0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318904	0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318907	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318909	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318914	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318921	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs388045	0.84[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs402168	0.91[AFR][1000 genomes]
rs73571312	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50855200-50875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:50868400-50873200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:50869800-50875000	Weak transcription	Fetal Brain Male	brain
5	chr8:50870200-50875400	Weak transcription	Fetal Lung	lung
6	chr8:50870400-50875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:50870400-50875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:50871000-50874600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:50872800-50873200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:50872800-50875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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