Variant report

Variant	rs2919315
Chromosome Location	chr8:62174729-62174730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10090442	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119228	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919303	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2919305	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919311	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919312	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919313	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919314	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931284	0.82[ASN][1000 genomes]
rs2931285	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931286	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931295	1.00[ASN][1000 genomes]
rs2931351	0.82[ASN][1000 genomes]
rs2931353	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2931354	0.82[ASN][1000 genomes]
rs2931355	0.82[ASN][1000 genomes]
rs2931356	0.82[ASN][1000 genomes]
rs2978491	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978548	0.82[ASN][1000 genomes]
rs2978550	0.82[ASN][1000 genomes]
rs2978552	0.82[ASN][1000 genomes]
rs2978558	0.95[ASN][1000 genomes]
rs4100940	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818621	0.82[ASN][1000 genomes]
rs7834568	0.82[ASN][1000 genomes]
rs7838580	0.82[ASN][1000 genomes]
rs964784	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][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	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3449810	chr8:62174500-62174902	Weak transcription Enhancers	n/a	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	chr8:62170800-62176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:62172000-62175200	Enhancers	Fetal Intestine Large	intestine
3	chr8:62172400-62175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:62172600-62175200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:62172600-62175200	Weak transcription	GM12878-XiMat	blood
6	chr8:62172800-62175200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:62172800-62176200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:62174000-62174800	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:62174200-62175600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:62174600-62177400	Weak transcription	Adipose Nuclei	Adipose

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