Variant report

Variant	rs11636130
Chromosome Location	chr15:73210869-73210870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1080331	0.82[ASN][1000 genomes]
rs1080332	0.82[ASN][1000 genomes]
rs10851861	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11072395	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072398	0.81[ASN][1000 genomes]
rs11631402	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11632408	0.89[EUR][1000 genomes]
rs11638999	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11852401	1.00[CEU][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs11854040	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857225	0.81[ASN][1000 genomes]
rs11857236	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12148518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438940	0.82[ASN][1000 genomes]
rs12441946	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12442084	0.82[ASN][1000 genomes]
rs12899945	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1449266	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1449267	0.82[ASN][1000 genomes]
rs1449269	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1466111	0.82[ASN][1000 genomes]
rs1823338	0.82[ASN][1000 genomes]
rs1839270	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1868473	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1979106	0.81[ASN][1000 genomes]
rs2100202	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2100203	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2122217	0.83[ASN][1000 genomes]
rs2197893	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197894	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415209	0.89[CHD][hapmap];0.87[JPT][hapmap]
rs2415212	0.96[ASN][1000 genomes]
rs2415213	0.96[ASN][1000 genomes]
rs28505267	0.95[ASN][1000 genomes]
rs28548649	0.92[ASN][1000 genomes]
rs28647497	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28653293	0.92[ASN][1000 genomes]
rs4315307	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4776618	0.88[EUR][1000 genomes]
rs4777566	0.92[EUR][1000 genomes]
rs4777577	0.86[JPT][hapmap]
rs60053960	0.83[ASN][1000 genomes]
rs60557800	0.82[ASN][1000 genomes]
rs62016086	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495033	0.80[ASN][1000 genomes]
rs71397270	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7164304	0.80[ASN][1000 genomes]
rs7171864	0.92[ASN][1000 genomes]
rs8025463	0.91[JPT][hapmap]
rs8025665	0.84[CHD][hapmap];0.83[JPT][hapmap]
rs8028981	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036013	0.81[ASN][1000 genomes]
rs8041735	0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11636130	CLN6	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73204800-73212200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:73208800-73212200	Weak transcription	Fetal Brain Male	brain
3	chr15:73209400-73212000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:73209600-73212200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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