Variant report

Variant	rs7443963
Chromosome Location	chr5:107972764-107972765
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	chr5:107965170..107967420-chr5:107972651..107975039,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10059646	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11240978	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11240979	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11240980	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12652136	0.87[EUR][1000 genomes]
rs34185682	0.80[ASN][1000 genomes]
rs6594324	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6879959	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6884839	0.87[ASN][1000 genomes]
rs6885821	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6889809	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7443716	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7444986	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7448313	0.82[ASN][1000 genomes]
rs7448620	0.87[EUR][1000 genomes]
rs7449365	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1019409	chr5:107934028-107991426	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	5 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	chr5:107970200-107977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:107970600-107977800	Weak transcription	Osteobl	bone
3	chr5:107970800-107972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:107970800-107974800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:107971400-107972800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:107971400-107973600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:107971400-107973600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:107971400-107973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:107971400-107973600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:107971600-107973400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:107971600-107973600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:107971600-107973600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:107971600-107973600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:107971800-107973000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:107972200-107973000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:107972200-107974000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:107972200-107974000	Enhancers	NHDF-Ad	bronchial
18	chr5:107972400-107973000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:107972400-107973600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:107972400-107973800	Enhancers	NHEK	skin
21	chr5:107972600-107973600	Enhancers	HMEC	breast
22	chr5:107972600-107973800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:107972600-107977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:107972600-107977600	Weak transcription	GM12878-XiMat	blood

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