Variant report

Variant	rs12280535
Chromosome Location	chr11:75068778-75068779
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12272576	0.81[ASN][1000 genomes]
rs12274033	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12285820	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12289289	0.80[ASN][1000 genomes]
rs12290287	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291467	0.82[ASN][1000 genomes]
rs12293207	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs34867163	0.82[ASN][1000 genomes]
rs35382855	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59368208	0.89[AMR][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
2	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:75064600-75071800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:75066600-75076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:75067000-75068800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:75067200-75076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:75067400-75069000	Enhancers	HUVEC	blood vessel
8	chr11:75067600-75068800	Enhancers	Spleen	Spleen
9	chr11:75067600-75069000	Enhancers	Fetal Muscle Leg	muscle
10	chr11:75068000-75068800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:75068000-75069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:75068600-75068800	Enhancers	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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