Variant report

Variant	rs1993606
Chromosome Location	chr8:113905064-113905065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10088619	0.81[CEU][hapmap]
rs10112881	0.80[CEU][hapmap]
rs1026490	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955638	0.96[CEU][hapmap];0.81[CHB][hapmap];0.96[YRI][hapmap]
rs11776352	0.82[CEU][hapmap]
rs11985714	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12335236	0.82[CEU][hapmap]
rs12547758	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1380135	0.96[CEU][hapmap];0.83[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1459008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504336	0.85[JPT][hapmap]
rs1599051	0.96[CEU][hapmap];0.81[CHB][hapmap];0.96[YRI][hapmap]
rs1991138	0.81[CEU][hapmap]
rs2355824	0.81[CEU][hapmap]
rs4876500	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6469441	0.96[CEU][hapmap];0.83[CHB][hapmap];0.96[YRI][hapmap]
rs6469442	0.96[CEU][hapmap];0.81[CHB][hapmap];0.96[YRI][hapmap]

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	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv891327	chr8:113828980-114109342	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113896800-113905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:113900800-113906400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:113904800-113905200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:113904800-113906200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:113904800-113906600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:113905000-113906600	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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