Variant report

Variant	rs2197894
Chromosome Location	chr15:73205435-73205436
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10851861	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11072395	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11072396	0.83[AFR][1000 genomes]
rs11631402	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11632408	0.90[EUR][1000 genomes]
rs11636130	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11638999	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11852401	0.92[CEU][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs11854040	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11857236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12148518	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441946	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12899945	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1449266	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1449269	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1839270	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1868473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2053857	0.80[AMR][1000 genomes]
rs2100202	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2100203	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2197893	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415208	0.83[AFR][1000 genomes]
rs2415209	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs2415212	0.90[ASN][1000 genomes]
rs2415213	0.90[ASN][1000 genomes]
rs28505267	0.90[ASN][1000 genomes]
rs28548649	0.94[ASN][1000 genomes]
rs28647497	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28653293	0.93[ASN][1000 genomes]
rs34173815	0.80[AMR][1000 genomes]
rs4238456	0.80[AMR][1000 genomes]
rs4238457	0.80[AMR][1000 genomes]
rs4315307	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4328412	0.80[AMR][1000 genomes]
rs4563021	0.81[AMR][1000 genomes]
rs4776618	0.89[EUR][1000 genomes]
rs4777566	0.92[EUR][1000 genomes]
rs4777569	0.80[AMR][1000 genomes]
rs4777577	0.91[JPT][hapmap]
rs62016086	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495035	0.80[AMR][1000 genomes]
rs71397270	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7171864	0.94[ASN][1000 genomes]
rs8025463	0.95[JPT][hapmap]
rs8025665	0.87[JPT][hapmap]
rs8028981	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8031589	0.80[AMR][1000 genomes]
rs8041735	0.89[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
rs2197894	CLN6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73204000-73205600	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr15:73204200-73205600	Enhancers	Fetal Muscle Leg	muscle
3	chr15:73204800-73209200	Weak transcription	Fetal Intestine Small	intestine
4	chr15:73204800-73212200	Weak transcription	Rectal Mucosa Donor 31	rectum

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