Variant report

Variant	rs7993686
Chromosome Location	chr13:51907078-51907079
allele	C/T
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:17)

rs_ID	r²[population]
rs1014934	0.86[CEU][hapmap];0.81[YRI][hapmap]
rs10454626	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2153512	0.83[MEX][hapmap]
rs3818360	0.86[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7322779	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7330764	0.88[EUR][1000 genomes]
rs7336209	0.91[CEU][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7990847	0.80[EUR][1000 genomes]
rs7991685	0.91[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316533	0.88[EUR][1000 genomes]
rs9535650	0.84[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535657	0.91[CEU][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535664	0.86[CEU][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596497	0.82[EUR][1000 genomes]
rs9596498	0.82[EUR][1000 genomes]
rs9596506	0.89[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788315	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51867600-51910800	Weak transcription	Pancreas	Pancrea
2	chr13:51900200-51914000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:51900400-51938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:51900800-51913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51903400-51913600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:51904000-51907800	Enhancers	Fetal Thymus	thymus
7	chr13:51904600-51907800	Enhancers	Primary T cells from cord blood	blood
8	chr13:51905000-51913800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:51905400-51915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:51906000-51917200	Weak transcription	HSMM	muscle
11	chr13:51906000-51944400	Weak transcription	Spleen	Spleen
12	chr13:51906200-51907600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:51906200-51935400	Weak transcription	HSMMtube	muscle
14	chr13:51906600-51908600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:51906800-51917200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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