Variant report

Variant	rs318889
Chromosome Location	chr8:50869246-50869247
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2220264	0.88[AFR][1000 genomes]
rs2449965	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450289	0.80[AFR][1000 genomes]
rs318863	0.80[AFR][1000 genomes]
rs318876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318878	0.81[AFR][1000 genomes]
rs318879	0.89[AFR][1000 genomes]
rs318880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318887	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs412095	0.80[AFR][1000 genomes]
rs442875	0.93[AFR][1000 genomes];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:8 , 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	chr8:50858400-50870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:50858400-50871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:50868200-50869400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:50868400-50873200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:50868600-50869600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:50868600-50872600	Weak transcription	Brain Germinal Matrix	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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