Variant report

Variant	rs71452745
Chromosome Location	chr11:47706753-47706754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11039361	1.00[AFR][1000 genomes]
rs11039370	1.00[AFR][1000 genomes]
rs34814128	1.00[AFR][1000 genomes]
rs34953939	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61897973	1.00[AFR][1000 genomes]
rs7941404	1.00[AFR][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	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71452745	MADD	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47689400-47711200	Weak transcription	Liver	Liver
2	chr11:47704200-47709800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:47704400-47709000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:47704400-47709800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:47704400-47711200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:47704400-47712000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:47704600-47709600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:47705600-47735600	Weak transcription	Primary B cells from cord blood	blood
9	chr11:47706400-47707000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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Input of quick search could be:

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

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