Variant report

Variant	rs60699545
Chromosome Location	chr4:142606015-142606016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17007480	0.86[AFR][1000 genomes]
rs17007489	0.88[AFR][1000 genomes]
rs17007506	0.92[AFR][1000 genomes]
rs17007530	0.83[AFR][1000 genomes]
rs17007535	0.97[AFR][1000 genomes]
rs17007539	0.83[AFR][1000 genomes]
rs17007541	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142583400-142634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142597800-142607600	Weak transcription	Small Intestine	intestine
3	chr4:142600400-142608200	Weak transcription	HSMM	muscle
4	chr4:142601600-142613600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:142601800-142607600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:142601800-142616400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:142602000-142607600	Weak transcription	Psoas Muscle	Psoas
8	chr4:142602800-142616400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:142604000-142608200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:142605000-142606600	Enhancers	Hela-S3	cervix
11	chr4:142605400-142607000	Enhancers	HUVEC	blood vessel
12	chr4:142605600-142606200	Enhancers	NHDF-Ad	bronchial
13	chr4:142605600-142607000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:142605800-142606200	Enhancers	A549	lung
15	chr4:142605800-142606400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:142605800-142614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:142606000-142606600	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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