Variant report

Variant	rs16999731
Chromosome Location	chr20:53129448-53129449
allele	A/C
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:29)

rs_ID	r²[population]
rs10485786	0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16999732	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16999736	1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16999757	1.00[ASW][hapmap]
rs16999764	0.86[CHD][hapmap]
rs2426521	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2426522	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2426525	0.88[ASN][1000 genomes]
rs2426526	0.86[ASN][1000 genomes]
rs2426529	0.85[ASN][1000 genomes]
rs2426530	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2426531	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2426535	0.85[ASN][1000 genomes]
rs2426536	0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs57402636	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6014050	0.82[CHD][hapmap]
rs6023344	0.85[ASN][1000 genomes]
rs6091909	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6098044	0.85[ASN][1000 genomes]
rs6098064	0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6098074	0.86[CHD][hapmap]
rs61478556	0.80[AFR][1000 genomes]
rs726770	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7272302	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7274532	0.89[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs73276924	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8118345	1.00[ASW][hapmap]
rs8126261	1.00[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs974461	0.85[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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53111200-53132400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr20:53115000-53130600	Weak transcription	Fetal Brain Female	brain
3	chr20:53118800-53132600	Weak transcription	NHDF-Ad	bronchial
4	chr20:53119600-53137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
6	chr20:53127400-53130600	Weak transcription	Fetal Brain Male	brain
7	chr20:53127600-53130400	Weak transcription	Fetal Kidney	kidney
8	chr20:53127600-53130600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr20:53127800-53130600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr20:53127800-53130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr20:53127800-53130800	Weak transcription	Brain Anterior Caudate	brain
12	chr20:53127800-53131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr20:53127800-53132400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr20:53127800-53133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr20:53128600-53130600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:53128600-53142800	Weak transcription	Psoas Muscle	Psoas
17	chr20:53128800-53129800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr20:53129200-53129600	ZNF genes & repeats	Aorta	Aorta
19	chr20:53129200-53129800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr20:53129200-53130200	ZNF genes & repeats	HepG2	liver

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