Variant report

Variant	rs12520148
Chromosome Location	chr5:167151903-167151904
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:28)

rs_ID	r²[population]
rs10045430	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10065043	0.90[JPT][hapmap]
rs10462970	0.82[TSI][hapmap]
rs11134468	0.91[JPT][hapmap]
rs12516791	0.91[JPT][hapmap]
rs12520082	0.91[JPT][hapmap]
rs1364370	0.82[JPT][hapmap]
rs17069129	0.91[JPT][hapmap]
rs2337000	0.91[JPT][hapmap]
rs2337017	0.93[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2337018	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337021	0.82[TSI][hapmap]
rs279400	0.84[EUR][1000 genomes]
rs279402	0.93[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4285252	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4302613	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4479863	0.91[JPT][hapmap]
rs4628015	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869066	0.86[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs4869067	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161912	1.00[ASN][1000 genomes]
rs60495422	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862936	0.90[JPT][hapmap]
rs6891311	0.91[JPT][hapmap]
rs6895940	0.91[JPT][hapmap]
rs6898153	0.95[JPT][hapmap]
rs7713448	0.81[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs7717495	0.87[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167143400-167152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167143400-167156000	Weak transcription	NH-A	brain
3	chr5:167145400-167152400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167148000-167152400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:167148000-167152400	Weak transcription	Fetal Lung	lung
6	chr5:167148000-167152800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:167148200-167152400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:167148600-167157000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:167148800-167152400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:167148800-167156800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:167149200-167156000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:167149200-167156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:167150400-167155000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:167150400-167156800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:167150600-167156200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:167150800-167152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:167150800-167155000	Weak transcription	HSMM	muscle
18	chr5:167150800-167155800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:167150800-167156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:167150800-167156000	Weak transcription	HMEC	breast
21	chr5:167150800-167156000	Weak transcription	NHDF-Ad	bronchial
22	chr5:167150800-167156000	Weak transcription	NHEK	skin
23	chr5:167150800-167156200	Weak transcription	Osteobl	bone
24	chr5:167151000-167152400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:167151000-167156800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:167151800-167153200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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