Variant report

Variant	rs2475837
Chromosome Location	chr13:50535863-50535864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11617754	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066549	0.84[CHB][hapmap]
rs2066557	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2066571	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2066575	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2066585	0.84[CHB][hapmap]
rs2066591	0.84[CHB][hapmap]
rs2242482	0.84[CHB][hapmap]
rs2472599	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2490639	0.84[AFR][1000 genomes]
rs2687950	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs2687951	0.84[CHB][hapmap]
rs2740524	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2740545	0.84[CHB][hapmap]
rs2760914	0.84[CHB][hapmap]
rs2803839	0.84[CHB][hapmap]
rs2812222	0.84[CHB][hapmap]
rs28798976	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3116591	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4548769	0.84[CHB][hapmap]
rs4942899	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs4942901	0.81[ASN][1000 genomes]
rs7338055	0.80[ASN][1000 genomes]
rs73489861	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73489862	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73489867	0.83[AFR][1000 genomes]
rs790943	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7986337	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535407	0.84[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs9568354	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9568357	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568363	0.82[ASN][1000 genomes]
rs9568364	0.82[ASN][1000 genomes]
rs9568366	0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9596215	0.81[ASN][1000 genomes]
rs9596219	0.84[CHB][hapmap]
rs9596220	0.84[CHB][hapmap]

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	esv1834429	chr13:50509784-50536186	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
3	nsv561630	chr13:50525141-50545402	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv517142	chr13:50535863-50545357	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50511400-50537800	Weak transcription	Left Ventricle	heart
2	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:50529400-50547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:50529600-50537000	Weak transcription	Psoas Muscle	Psoas
5	chr13:50529600-50550000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:50529800-50536600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:50529800-50539400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:50529800-50543200	Weak transcription	Osteobl	bone
9	chr13:50529800-50544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:50530000-50536400	Weak transcription	Placenta	Placenta
11	chr13:50530000-50546600	Weak transcription	Fetal Thymus	thymus
12	chr13:50530400-50537200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr13:50531400-50536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:50531400-50550400	Weak transcription	NHDF-Ad	bronchial
15	chr13:50532400-50537600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:50532800-50537400	Weak transcription	Brain Substantia Nigra	brain
17	chr13:50533000-50552200	Weak transcription	Ovary	ovary
18	chr13:50533600-50539600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:50534000-50536600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr13:50534400-50550400	Weak transcription	HSMM	muscle
21	chr13:50534800-50536400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:50535200-50537600	Weak transcription	Liver	Liver
23	chr13:50535600-50547400	Weak transcription	Thymus	Thymus
24	chr13:50535800-50536000	ZNF genes & repeats	Primary B cells from cord blood	blood

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