Variant report

Variant	rs61230886
Chromosome Location	chr3:54392438-54392439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1375518	1.00[AMR][1000 genomes]
rs17053898	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17053916	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17053918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17053949	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2884798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56309833	1.00[EUR][1000 genomes]
rs56741949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57538371	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57766380	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58288863	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58521503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58840083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6414574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73841933	1.00[AMR][1000 genomes]
rs73841992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73841993	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73841994	1.00[AMR][1000 genomes]
rs73841995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73841996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7627851	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7637759	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825538	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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817210	chr3:54365684-54511164	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54383400-54392600	Weak transcription	Right Ventricle	heart
2	chr3:54387200-54392600	Enhancers	Ovary	ovary
3	chr3:54387200-54394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:54387600-54394800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr3:54387600-54394800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:54387600-54396200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:54387800-54393800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:54388800-54395400	Enhancers	Hela-S3	cervix
9	chr3:54389400-54393600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:54390000-54393400	Weak transcription	Spleen	Spleen
11	chr3:54390000-54394400	Weak transcription	Esophagus	oesophagus
12	chr3:54390400-54393600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:54390400-54394200	Enhancers	Colon Smooth Muscle	Colon
14	chr3:54391000-54393200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:54391200-54393800	Weak transcription	Fetal Stomach	stomach
16	chr3:54391200-54394000	Weak transcription	Psoas Muscle	Psoas
17	chr3:54391400-54392600	Weak transcription	Liver	Liver
18	chr3:54391400-54394400	Weak transcription	Aorta	Aorta
19	chr3:54391800-54392800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:54391800-54393000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:54391800-54393400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:54392000-54392800	Weak transcription	Fetal Lung	lung
23	chr3:54392000-54393000	Weak transcription	Adipose Nuclei	Adipose
24	chr3:54392000-54393600	Weak transcription	Brain Angular Gyrus	brain
25	chr3:54392000-54394000	Weak transcription	Right Atrium	heart
26	chr3:54392400-54392600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:54392400-54392800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:54392400-54392800	Enhancers	Fetal Muscle Trunk	muscle
29	chr3:54392400-54392800	Enhancers	Left Ventricle	heart
30	chr3:54392400-54393200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:54392400-54393400	Enhancers	Fetal Muscle Leg	muscle
32	chr3:54392400-54393800	Enhancers	HMEC	breast
33	chr3:54392400-54394600	Enhancers	Rectal Smooth Muscle	rectum

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