Variant report

Variant	rs8052008
Chromosome Location	chr16:82898799-82898800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10781995	0.90[JPT][hapmap]
rs11150496	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11150498	0.83[ASN][1000 genomes]
rs11150500	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11150502	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150507	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11150515	1.00[YRI][hapmap]
rs11150517	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs11150518	0.85[CHB][hapmap]
rs11641036	0.83[ASN][1000 genomes]
rs12149890	0.83[ASN][1000 genomes]
rs12918477	0.82[ASN][1000 genomes]
rs12928678	1.00[CHB][hapmap]
rs12929586	0.83[ASN][1000 genomes]
rs1381500	0.83[ASN][1000 genomes]
rs1559312	1.00[YRI][hapmap]
rs1585533	0.83[ASN][1000 genomes]
rs1903618	0.83[ASN][1000 genomes]
rs192598	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs192599	1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1947715	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1991024	1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1991025	1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2059230	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2061629	0.89[JPT][hapmap]
rs2113137	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2113138	1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2113139	0.96[ASN][1000 genomes]
rs2113140	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2194283	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2194285	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2216739	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs2325690	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549141	1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2615127	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2615128	1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2615133	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs286666	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs286667	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs286668	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs286674	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286676	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286678	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286680	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs286682	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286684	0.87[AMR][1000 genomes]
rs286685	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs286687	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34211526	0.94[ASN][1000 genomes]
rs35359335	0.81[AFR][1000 genomes]
rs3911751	0.83[ASN][1000 genomes]
rs4485358	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4513093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4782734	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs4782736	0.95[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4783290	1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4783291	0.83[ASN][1000 genomes]
rs4783292	0.87[AFR][1000 genomes]
rs4783293	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs4783294	0.87[CEU][hapmap];0.85[CHB][hapmap];0.93[YRI][hapmap]
rs4783296	0.85[CHB][hapmap]
rs6565075	0.85[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7184056	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7198913	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7201088	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7201829	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs7202068	0.86[CHB][hapmap]
rs7206473	0.85[CHB][hapmap]
rs7498269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8051136	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8052174	1.00[YRI][hapmap]
rs8053647	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918659	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs918660	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs918661	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs929846	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs929847	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs929848	0.82[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9319576	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9319577	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9319578	0.85[CHB][hapmap]
rs9921828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9931196	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9933586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9933935	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9935163	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:17 , 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	chr16:82889800-82900400	Weak transcription	NHDF-Ad	bronchial
4	chr16:82891000-82907000	Weak transcription	Psoas Muscle	Psoas
5	chr16:82891600-82907800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:82892400-82898800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82897000-82899000	Weak transcription	HSMMtube	muscle
8	chr16:82897800-82898800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr16:82897800-82899800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:82897800-82905200	Weak transcription	HSMM	muscle
11	chr16:82898000-82898800	Enhancers	Small Intestine	intestine
12	chr16:82898200-82899000	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:82898400-82899000	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr16:82898400-82899400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:82898400-82899800	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr16:82898400-82904600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:82898600-82899400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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