Variant report

Variant	rs534299
Chromosome Location	chr11:75424546-75424547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2508390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510630	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2510633	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs509530	1.00[CEU][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs555939	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs624580	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs624636	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs631058	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs636491	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs648618	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs653229	1.00[CEU][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs695155	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75423800-75425000	Enhancers	Colonic Mucosa	Colon
2	chr11:75423800-75425000	Enhancers	Duodenum Mucosa	Duodenum
3	chr11:75423800-75425200	Enhancers	K562	blood
4	chr11:75424000-75424800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:75424000-75425000	Enhancers	Fetal Intestine Small	intestine
6	chr11:75424000-75425400	Enhancers	Fetal Intestine Large	intestine
7	chr11:75424000-75428200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:75424200-75425000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:75424200-75426200	Enhancers	Rectal Mucosa Donor 29	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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