Variant report

Variant	rs7983093
Chromosome Location	chr13:69514105-69514106
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1340730	0.86[EUR][1000 genomes]
rs1541196	0.86[EUR][1000 genomes]
rs2438448	0.83[EUR][1000 genomes]
rs4883831	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4884817	0.86[EUR][1000 genomes]
rs6562551	0.80[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs7331207	0.86[EUR][1000 genomes]
rs8000642	0.86[EUR][1000 genomes]
rs9541662	0.86[EUR][1000 genomes]
rs9541672	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs9541674	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs9564508	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049303	chr13:69238676-69923558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1038918	chr13:69251052-69919763	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541829	chr13:69251052-69919763	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1046227	chr13:69402973-69543492	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv900453	chr13:69449431-69757982	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv900454	chr13:69484933-69560429	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv900455	chr13:69484933-69579427	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv900456	chr13:69484933-69586193	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv900457	chr13:69484933-69593473	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv900458	chr13:69484933-69615359	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv900459	chr13:69484933-69741897	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1826146	chr13:69494334-69530750	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1038347	chr13:69494334-69745622	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv471147	chr13:69500672-69559370	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv974028	chr13:69505627-69533104	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1044793	chr13:69506707-69590593	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv455959	chr13:69512812-69583647	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv562200	chr13:69512812-69583647	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69512800-69515200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:69513200-69514400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr13:69513200-69514600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:69513200-69515000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:69513600-69514600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:69513800-69514600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:69514000-69514600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:69514000-69514600	Enhancers	iPS-15b 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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