Variant report

Variant	rs60495422
Chromosome Location	chr5:167149373-167149374
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167145648..167148194-chr5:167148598..167150135,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10045430	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12520148	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337017	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2337018	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs279400	0.87[EUR][1000 genomes]
rs279402	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4285252	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4302613	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4628015	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869066	0.88[EUR][1000 genomes]
rs4869067	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161912	1.00[ASN][1000 genomes]
rs7713448	0.92[EUR][1000 genomes]
rs7717495	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167140800-167150200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167143400-167152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167143400-167156000	Weak transcription	NH-A	brain
4	chr5:167145400-167152400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:167146800-167150800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:167147600-167150200	Weak transcription	HSMMtube	muscle
7	chr5:167148000-167150000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:167148000-167150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:167148000-167150000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:167148000-167152400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:167148000-167152400	Weak transcription	Fetal Lung	lung
12	chr5:167148000-167152800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:167148200-167150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:167148200-167150200	Weak transcription	Osteobl	bone
15	chr5:167148200-167152400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:167148400-167149800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:167148400-167150400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:167148400-167150800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:167148600-167149400	Strong transcription	HSMM	muscle
20	chr5:167148600-167150000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:167148600-167150600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:167148600-167157000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:167148800-167150200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:167148800-167152400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:167148800-167156800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:167149000-167150800	Enhancers	NHEK	skin
27	chr5:167149000-167151000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:167149200-167150200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:167149200-167150800	Enhancers	HMEC	breast
30	chr5:167149200-167156000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:167149200-167156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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