Variant report

Variant	rs7701192
Chromosome Location	chr5:5298350-5298351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10045494	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10223220	0.97[ASN][1000 genomes]
rs11134105	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11134110	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs11745231	0.91[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs12109419	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12109952	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12110240	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12518997	0.84[MEX][hapmap]
rs12518998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13187473	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4478286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4701698	0.80[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59338680	0.81[ASN][1000 genomes]
rs6555341	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6555343	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6555344	0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6555345	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6555346	0.84[MEX][hapmap]
rs6555348	0.84[MEX][hapmap]
rs6555349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6555350	0.84[MEX][hapmap]
rs7720820	0.84[MEX][hapmap]
rs7721079	0.86[CHB][hapmap]
rs966681	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1793859	chr5:5298350-5309672	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7701192	ADAMTS16	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5272400-5298400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:5293000-5301800	Weak transcription	Ovary	ovary
3	chr5:5293200-5301800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:5293400-5302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:5294800-5299600	Enhancers	Fetal Brain Male	brain
6	chr5:5296200-5299200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:5296600-5300000	Enhancers	HepG2	liver
8	chr5:5296800-5299600	Enhancers	Liver	Liver
9	chr5:5297000-5298400	Enhancers	Brain Angular Gyrus	brain
10	chr5:5297000-5298800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:5297200-5299600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:5297400-5299600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:5297800-5298600	Enhancers	Brain Hippocampus Middle	brain
14	chr5:5297800-5299200	Enhancers	NH-A	brain
15	chr5:5297800-5299400	Enhancers	Fetal Lung	lung
16	chr5:5297800-5299400	Enhancers	Fetal Muscle Leg	muscle
17	chr5:5297800-5299800	Enhancers	Fetal Intestine Large	intestine
18	chr5:5298000-5298600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:5298000-5298600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:5298000-5298600	Enhancers	Pancreas	Pancrea
21	chr5:5298200-5298800	Enhancers	Brain Anterior Caudate	brain
22	chr5:5298200-5299400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:5298200-5299400	Enhancers	Brain Germinal Matrix	brain
24	chr5:5298200-5299600	Enhancers	Fetal Intestine Small	intestine

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