Variant report

Variant	rs74112020
Chromosome Location	chr12:85839303-85839304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1398438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1512724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1512727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1849383	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1913136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34293292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936484	0.85[AFR][1000 genomes]
rs59152451	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7137028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73377122	1.00[AFR][1000 genomes]
rs73377184	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:85838800-85839400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:85838800-85839600	Enhancers	Duodenum Mucosa	Duodenum
3	chr12:85839000-85839400	Flanking Active TSS	Fetal Intestine Large	intestine
4	chr12:85839000-85839400	Enhancers	Fetal Intestine Small	intestine
5	chr12:85839000-85839600	Enhancers	Colonic Mucosa	Colon
6	chr12:85839000-85839600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:85839000-85839800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:85839000-85839800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:85839000-85839800	Flanking Active TSS	A549	lung
10	chr12:85839000-85840000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:85839200-85839600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr12:85839200-85839600	Enhancers	Stomach Mucosa	stomach

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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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