Variant report

Variant	rs2254178
Chromosome Location	chr6:101652860-101652861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1149271	0.94[EUR][1000 genomes]
rs12199600	0.93[EUR][1000 genomes]
rs12208565	1.00[ASN][1000 genomes]
rs1222375	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399557	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518322	0.90[EUR][1000 genomes]
rs2579929	1.00[ASN][1000 genomes]
rs2749130	1.00[ASN][1000 genomes]
rs2764271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787573	1.00[ASN][1000 genomes]
rs2797369	0.93[EUR][1000 genomes]
rs2852497	1.00[ASN][1000 genomes]
rs2852505	1.00[ASN][1000 genomes]
rs2852510	1.00[ASN][1000 genomes]
rs2852513	1.00[ASN][1000 genomes]
rs2852514	1.00[ASN][1000 genomes]
rs4240592	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429955	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455678	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615398	1.00[ASN][1000 genomes]
rs4839795	1.00[ASN][1000 genomes]
rs496596	1.00[ASN][1000 genomes]
rs503387	1.00[ASN][1000 genomes]
rs570556	1.00[ASN][1000 genomes]
rs626262	1.00[ASN][1000 genomes]
rs632956	1.00[ASN][1000 genomes]
rs643101	1.00[ASN][1000 genomes]
rs658318	1.00[ASN][1000 genomes]
rs661064	1.00[ASN][1000 genomes]
rs687497	1.00[ASN][1000 genomes]
rs697438	1.00[ASN][1000 genomes]
rs72944877	1.00[ASN][1000 genomes]
rs72958632	1.00[ASN][1000 genomes]
rs7740295	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817226	1.00[ASN][1000 genomes]
rs817227	1.00[ASN][1000 genomes]
rs817234	1.00[ASN][1000 genomes]
rs9390724	1.00[ASN][1000 genomes]
rs9498487	1.00[ASN][1000 genomes]
rs9498519	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv886458	chr6:101623345-101716365	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101647400-101653800	Weak transcription	Fetal Intestine Large	intestine
2	chr6:101648400-101655000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:101652200-101655000	Weak transcription	Rectal Mucosa Donor 29	rectum

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