Variant report

Variant	rs58953251
Chromosome Location	chr3:112165665-112165666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1072896	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1473485	0.82[ASN][1000 genomes]
rs1488265	0.93[ASN][1000 genomes]
rs1488266	0.93[ASN][1000 genomes]
rs16859561	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16859563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16859568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16859570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16859573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16859587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2683893	0.82[ASN][1000 genomes]
rs2705538	0.89[ASN][1000 genomes]
rs56713746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56735831	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56830153	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57048961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57240433	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58144611	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58164505	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58315065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58441702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59191788	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59429955	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59650289	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59925989	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60001227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60044977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60202763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60340975	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60413363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60733172	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60819545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60882964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61147417	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61446034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72936241	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72936252	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72936259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72936271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs924310	0.93[ASN][1000 genomes]
rs953716	0.89[ASN][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	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112161200-112167400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr3:112163000-112166800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:112163800-112166000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:112164000-112166000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:112164000-112168400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:112164200-112165800	Enhancers	HSMMtube	muscle
7	chr3:112164600-112165800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:112165000-112166600	Enhancers	Adipose Nuclei	Adipose
9	chr3:112165200-112165800	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:112165400-112165800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:112165400-112165800	Enhancers	Right Atrium	heart
12	chr3:112165400-112166000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:112165600-112169200	Weak transcription	Primary B cells from cord blood	blood

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