Variant report

Variant	rs58060513
Chromosome Location	chr4:81973795-81973796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:81286864..81287739-chr4:81972911..81973930,4	K562	blood:
2	chr4:81540203..81541132-chr4:81973708..81974534,2	MCF-7	breast:
3	chr4:81282246..81283120-chr4:81973336..81973855,3	MCF-7	breast:
4	chr4:81282384..81283008-chr4:81973306..81973843,2	MCF-7	breast:
5	chr4:81286735..81287727-chr4:81973316..81974174,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56342037	1.00[EUR][1000 genomes]
rs59021208	1.00[EUR][1000 genomes]
rs61729826	1.00[EUR][1000 genomes]
rs6846102	1.00[EUR][1000 genomes]
rs6851199	1.00[EUR][1000 genomes]
rs73831255	1.00[EUR][1000 genomes]
rs73831276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1006466	chr4:81888983-82009675	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81969400-81973800	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:81971400-81974200	Enhancers	Colon Smooth Muscle	Colon
3	chr4:81971600-81983000	Weak transcription	Ovary	ovary
4	chr4:81972000-81990800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:81973000-81974400	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr4:81973200-81973800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:81973200-81974000	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:81973200-81974600	Enhancers	Primary B cells from cord blood	blood
9	chr4:81973400-81973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:81973400-81973800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:81973400-81973800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:81973400-81973800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:81973400-81973800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:81973400-81973800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:81973400-81973800	Enhancers	Adipose Nuclei	Adipose
16	chr4:81973400-81973800	Flanking Active TSS	Liver	Liver
17	chr4:81973400-81973800	Enhancers	Fetal Intestine Large	intestine
18	chr4:81973400-81973800	Enhancers	Fetal Intestine Small	intestine
19	chr4:81973400-81973800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr4:81973400-81973800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:81973400-81973800	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:81973600-81973800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr4:81973600-81974400	Flanking Active TSS	GM12878-XiMat	blood

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