Variant report

Variant	rs1444910
Chromosome Location	chr5:41246770-41246771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41246537..41249382-chr5:41272514..41274880,2	K562	blood:
2	chr5:41245805..41247360-chr5:41249520..41252230,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014588	0.81[EUR][1000 genomes]
rs1023840	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs11959515	0.94[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13155376	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs13161475	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs1596666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871073	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822821	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2004385	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018900	0.87[EUR][1000 genomes]
rs2921173	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921176	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2962282	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs325882	0.87[YRI][hapmap]
rs35114048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36091790	0.81[EUR][1000 genomes]
rs3805716	0.82[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs4440413	0.84[EUR][1000 genomes]
rs4957377	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66496966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67047100	0.81[EUR][1000 genomes]
rs72753986	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][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	nsv427717	chr5:41201377-41369202	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv4808	chr5:41203254-41251985	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830269	chr5:41209113-41393536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv597879	chr5:41229277-41253853	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41239000-41248000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:41246000-41247200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:41246200-41246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:41246200-41246800	Enhancers	NH-A	brain
5	chr5:41246200-41247000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:41246200-41247000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:41246200-41247000	Enhancers	Stomach Mucosa	stomach
8	chr5:41246200-41247000	Enhancers	HMEC	breast
9	chr5:41246200-41247400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:41246200-41247400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:41246400-41246800	Enhancers	Ovary	ovary
12	chr5:41246400-41247000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:41246600-41247000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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