Variant report

Variant	rs72964775
Chromosome Location	chr3:120613166-120613167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs56883189	1.00[AFR][1000 genomes]
rs61610238	1.00[AFR][1000 genomes]
rs72964782	1.00[AFR][1000 genomes]
rs72964798	1.00[AFR][1000 genomes]
rs72964800	1.00[AFR][1000 genomes]
rs72966703	1.00[AFR][1000 genomes]
rs72966708	1.00[AFR][1000 genomes]
rs72966710	1.00[AFR][1000 genomes]
rs72966714	1.00[AFR][1000 genomes]
rs72966762	1.00[AFR][1000 genomes]
rs72966772	1.00[AFR][1000 genomes]
rs72966774	1.00[AFR][1000 genomes]
rs72966775	1.00[AFR][1000 genomes]
rs72966802	1.00[AFR][1000 genomes]
rs72968808	1.00[AFR][1000 genomes]
rs72968812	1.00[AFR][1000 genomes]
rs72968818	1.00[AFR][1000 genomes]
rs72968838	1.00[AFR][1000 genomes]
rs72968840	1.00[AFR][1000 genomes]
rs72968844	1.00[AFR][1000 genomes]
rs72968852	1.00[AFR][1000 genomes]
rs72968854	1.00[AFR][1000 genomes]
rs72968858	1.00[AFR][1000 genomes]
rs72968862	1.00[AFR][1000 genomes]
rs72970628	1.00[AFR][1000 genomes]
rs72970639	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120611400-120613600	Enhancers	Rectal Smooth Muscle	rectum
2	chr3:120612000-120614400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:120612200-120613200	Enhancers	Hela-S3	cervix
4	chr3:120612200-120613800	Enhancers	Colon Smooth Muscle	Colon
5	chr3:120612600-120613600	Enhancers	Ovary	ovary
6	chr3:120613000-120613400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:120613000-120613600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:120613000-120613600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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