Variant report

Variant	rs6555344
Chromosome Location	chr5:5295229-5295230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5288956..5291739-chr5:5293671..5295239,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10045494	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10512779	0.80[MEX][hapmap]
rs11134102	0.81[CHB][hapmap]
rs11134105	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11134110	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs11745231	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs12109419	0.84[EUR][1000 genomes]
rs12109952	0.84[EUR][1000 genomes]
rs12110240	0.83[EUR][1000 genomes]
rs12518997	0.88[MEX][hapmap]
rs12518998	0.87[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs13187473	0.84[EUR][1000 genomes]
rs2913670	0.87[ASN][1000 genomes]
rs4478286	0.87[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs4701698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59338680	1.00[ASN][1000 genomes]
rs62338254	0.94[ASN][1000 genomes]
rs6555340	0.84[MEX][hapmap]
rs6555341	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6555343	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6555345	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6555346	0.88[MEX][hapmap]
rs6555347	0.84[MEX][hapmap]
rs6555348	0.88[MEX][hapmap]
rs6555349	0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs6555350	0.88[MEX][hapmap]
rs7701192	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]
rs7720820	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6555344	ADAMTS16	cis	cerebellum	SCAN

Chromatin state (count:10 , 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	chr5:5291000-5297200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:5292000-5295600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:5292000-5297000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:5292200-5297800	Weak transcription	NH-A	brain
6	chr5:5293000-5301800	Weak transcription	Ovary	ovary
7	chr5:5293200-5301800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:5293400-5302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:5294600-5295600	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:5294800-5299600	Enhancers	Fetal Brain Male	brain

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