Variant report

Variant	rs4513093
Chromosome Location	chr16:82906542-82906543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10781995	1.00[JPT][hapmap]
rs11150496	1.00[CHD][hapmap];0.89[JPT][hapmap]
rs11150500	0.85[ASN][1000 genomes]
rs11150502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11150507	0.96[ASN][1000 genomes]
rs11150517	0.85[CHB][hapmap]
rs11150518	0.85[CHB][hapmap];0.81[MKK][hapmap]
rs12928678	1.00[CHB][hapmap]
rs1559312	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs192598	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs192599	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1947715	1.00[CHD][hapmap];0.89[JPT][hapmap]
rs1991024	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1991025	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2059230	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap]
rs2061629	0.89[JPT][hapmap]
rs2113137	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2113138	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2113139	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113140	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2194283	0.85[ASN][1000 genomes]
rs2194285	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2216739	0.85[CHB][hapmap]
rs2325690	0.96[ASN][1000 genomes]
rs2549141	0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2615127	0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2615128	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2615133	0.83[ASN][1000 genomes]
rs286666	0.85[ASN][1000 genomes]
rs286667	0.85[ASN][1000 genomes]
rs286668	0.85[ASN][1000 genomes]
rs286674	0.86[ASN][1000 genomes]
rs286676	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs286678	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs286680	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs286682	0.86[ASN][1000 genomes]
rs286685	0.90[ASN][1000 genomes]
rs286687	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34211526	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4485358	1.00[CHB][hapmap]
rs4782734	0.89[JPT][hapmap]
rs4783290	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4783293	1.00[CHB][hapmap]
rs4783294	1.00[CHB][hapmap]
rs4783296	0.85[CHB][hapmap]
rs6565075	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7184056	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7198913	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7201088	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7201829	0.85[CHB][hapmap]
rs7202068	0.85[CHB][hapmap]
rs7206473	0.85[CHB][hapmap]
rs7498269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8051136	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8052008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8053647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs918659	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs918660	1.00[CHB][hapmap]
rs918661	1.00[CHB][hapmap]
rs929846	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs929847	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs929848	0.82[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap]
rs9319576	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9319577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9319578	0.85[CHB][hapmap];0.80[MKK][hapmap]
rs9921828	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9921848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9931196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9933586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9933935	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4513093	CMIP	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82879200-82907000	Weak transcription	Left Ventricle	heart
2	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
3	chr16:82891000-82907000	Weak transcription	Psoas Muscle	Psoas
4	chr16:82891600-82907800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:82899400-82909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:82901200-82910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:82905000-82910400	Weak transcription	HSMMtube	muscle
8	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:82905800-82907800	Weak transcription	Aorta	Aorta
10	chr16:82905800-82924800	Weak transcription	HSMM	muscle
11	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:82906400-82908800	Enhancers	Fetal Heart	heart

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