Variant report

Variant	rs7191791
Chromosome Location	chr16:82989930-82989931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82989589..82991167-chr16:82991330..82994189,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10492865	0.93[CHB][hapmap]
rs10492866	0.80[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10492867	0.87[CHB][hapmap]
rs11150525	0.81[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs11150527	0.82[CHD][hapmap];0.83[GIH][hapmap];0.81[ASN][1000 genomes]
rs11864595	0.81[CHD][hapmap]
rs11866755	0.80[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs12324975	0.87[CHD][hapmap];0.83[GIH][hapmap];0.80[ASN][1000 genomes]
rs12447446	0.93[CHB][hapmap]
rs12932892	0.82[ASN][1000 genomes]
rs16958917	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs17682248	0.81[ASN][1000 genomes]
rs1862677	0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1862678	0.80[ASN][1000 genomes]
rs1862679	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1862680	0.80[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs1991022	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1991023	0.81[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs2216737	0.80[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs28726147	0.86[ASN][1000 genomes]
rs34071857	0.81[ASN][1000 genomes]
rs35434478	0.81[ASN][1000 genomes]
rs6565087	0.86[ASN][1000 genomes]
rs6565088	0.80[CHB][hapmap];0.95[CHD][hapmap];0.85[ASN][1000 genomes]
rs6565089	0.80[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs6565091	0.85[ASN][1000 genomes]
rs66956700	0.82[ASN][1000 genomes]
rs67038903	0.80[ASN][1000 genomes]
rs7189754	0.87[CHB][hapmap];0.92[CHD][hapmap]
rs7190176	0.87[CHB][hapmap];0.92[CHD][hapmap]
rs7201133	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs8048323	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs918656	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs9319581	0.80[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9926368	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs9928761	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv907029	chr16:82951179-83044665	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv907030	chr16:82959437-83044665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1056005	chr16:82987872-83055420	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055246	chr16:82988025-83056132	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1064172	chr16:82988932-83046695	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv522570	chr16:82988977-83044665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv573383	chr16:82988977-83044665	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3487920	chr16:82989908-82990148	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82934000-83003400	Weak transcription	NHEK	skin
2	chr16:82970800-83021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:82971400-83009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:82972800-82994600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:82976600-83013800	Weak transcription	Aorta	Aorta
6	chr16:82979200-83004600	Weak transcription	Left Ventricle	heart
7	chr16:82985000-83004800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:82987600-82990000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:82987600-82990000	Enhancers	Osteobl	bone
10	chr16:82987800-82991800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:82988200-82990600	Enhancers	NH-A	brain
12	chr16:82989600-82990400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:82989600-82991000	Enhancers	HSMMtube	muscle
14	chr16:82989800-82990800	Enhancers	HSMM	muscle
15	chr16:82989800-83029600	Weak transcription	HMEC	breast

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