Variant report

Variant	rs7983875
Chromosome Location	chr13:76329245-76329246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1323712	0.84[AFR][1000 genomes]
rs34545980	0.92[AFR][1000 genomes]
rs4885346	0.91[ASN][1000 genomes]
rs552030	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs689418	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7320216	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7320602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336473	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7991448	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7997101	0.81[CEU][hapmap];0.83[YRI][hapmap]
rs9530466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573647	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
2	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76322400-76334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:76323800-76336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76324000-76330600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:76324000-76330800	Weak transcription	NHLF	lung
8	chr13:76324000-76332200	Weak transcription	HSMMtube	muscle
9	chr13:76324000-76335200	Weak transcription	NH-A	brain
10	chr13:76324200-76334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:76325200-76335200	Weak transcription	Ovary	ovary
12	chr13:76325800-76331200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:76325800-76333600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:76326000-76330600	Weak transcription	NHDF-Ad	bronchial
15	chr13:76326000-76330600	Strong transcription	Osteobl	bone
16	chr13:76326000-76334600	Weak transcription	Fetal Lung	lung
17	chr13:76326800-76331600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr13:76327000-76331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:76327200-76333800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:76327800-76333800	Weak transcription	Fetal Brain Male	brain
21	chr13:76328200-76331600	Strong transcription	HSMM	muscle
22	chr13:76328600-76330600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:76328600-76333800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:76329000-76330400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:76329200-76335600	Weak transcription	Primary B cells from cord blood	blood

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