Variant report

Variant	rs11647888
Chromosome Location	chr16:82765607-82765608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1000078	0.83[CHD][hapmap];0.81[AMR][1000 genomes]
rs10514557	0.80[AMR][1000 genomes]
rs10514558	0.83[AMR][1000 genomes]
rs1157118	0.88[AMR][1000 genomes]
rs11640522	1.00[ASW][hapmap];0.85[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs11646321	0.83[CHD][hapmap]
rs11647530	0.81[AMR][1000 genomes]
rs11648238	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12448904	0.90[JPT][hapmap]
rs13332390	0.81[CHD][hapmap]
rs13334499	0.82[CHD][hapmap]
rs1462035	0.83[CHD][hapmap]
rs1462037	0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1462043	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17183029	0.81[AMR][1000 genomes]
rs17183071	0.80[AMR][1000 genomes]
rs17183279	0.83[AMR][1000 genomes]
rs17273696	0.83[CHD][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17274555	0.82[AMR][1000 genomes]
rs17274793	0.81[AMR][1000 genomes]
rs17274905	0.81[AMR][1000 genomes]
rs2126369	0.82[AMR][1000 genomes]
rs2318186	0.81[AMR][1000 genomes]
rs2318190	0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4293370	0.83[AMR][1000 genomes]
rs4620944	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4783266	1.00[CEU][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58786779	0.80[AMR][1000 genomes]
rs62034474	0.89[AMR][1000 genomes]
rs62034479	0.82[AMR][1000 genomes]
rs62034480	0.82[AMR][1000 genomes]
rs62034481	0.82[AMR][1000 genomes]
rs62034482	0.82[AMR][1000 genomes]
rs62034484	0.81[AMR][1000 genomes]
rs7197336	0.81[CEU][hapmap]
rs7197523	0.81[AMR][1000 genomes]
rs7201087	0.81[AMR][1000 genomes]
rs8044955	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8046067	0.81[AMR][1000 genomes]
rs8046098	0.82[AMR][1000 genomes]
rs8059776	0.84[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs8060885	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv907024	chr16:82713874-82768568	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
8	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv907025	chr16:82718030-82768568	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
10	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
11	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1064438	chr16:82762729-82788901	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82749800-82768400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:82750200-82780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:82750600-82765800	Weak transcription	HSMMtube	muscle
4	chr16:82762000-82773800	Weak transcription	NHEK	skin
5	chr16:82763400-82768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82763400-82768600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:82763600-82766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:82763600-82766600	Weak transcription	Left Ventricle	heart
9	chr16:82764400-82766600	Weak transcription	HSMM	muscle
10	chr16:82764600-82768600	Weak transcription	NHDF-Ad	bronchial
11	chr16:82764800-82766400	Weak transcription	Psoas Muscle	Psoas
12	chr16:82764800-82766400	Weak transcription	HMEC	breast
13	chr16:82764800-82767600	Weak transcription	Right Atrium	heart
14	chr16:82765000-82768600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:82765400-82765800	Enhancers	Aorta	Aorta
16	chr16:82765400-82768600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr16:82765600-82766400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:82765600-82768200	Enhancers	Skeletal Muscle Male	skeletal muscle

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