Variant report

Variant	rs1948427
Chromosome Location	chr9:72580779-72580780
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	chr9:72579585..72583057-chr9:72584421..72588172,5	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1013272	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10156645	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511976	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10511977	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140833	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11140842	0.81[AMR][1000 genomes]
rs11140857	0.89[EUR][1000 genomes]
rs11140862	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11140863	0.89[EUR][1000 genomes]
rs11140864	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11140879	0.82[EUR][1000 genomes]
rs11140890	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11140986	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141040	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141043	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11141049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335359	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12339764	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340850	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12342567	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342648	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342964	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343259	0.81[AMR][1000 genomes]
rs12343759	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343851	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344385	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345448	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347023	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347970	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349644	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12350185	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12350231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352875	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086149	0.89[EUR][1000 genomes]
rs28799079	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637911	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708059	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55833239	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56198641	0.81[AMR][1000 genomes]
rs56336865	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57482063	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59220396	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59269830	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027808	0.89[EUR][1000 genomes]
rs7044303	0.89[EUR][1000 genomes]
rs72709145	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709155	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709188	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72725226	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72725252	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725262	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725264	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853925	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7855138	0.80[EUR][1000 genomes]
rs7870671	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1035668	chr9:72555053-72632796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1051004	chr9:72557761-72632015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 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	chr9:72577200-72584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:72578600-72580800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:72579400-72580800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:72579800-72581400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:72580000-72580800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:72580000-72581000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:72580000-72581200	Enhancers	NHDF-Ad	bronchial
8	chr9:72580000-72586600	Weak transcription	HMEC	breast
9	chr9:72580200-72580800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:72580200-72580800	Flanking Active TSS	Osteobl	bone
11	chr9:72580200-72581200	Enhancers	NHLF	lung
12	chr9:72580200-72581400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:72580400-72580800	Enhancers	HSMMtube	muscle
14	chr9:72580400-72585400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:72580400-72585600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:72580400-72585600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:72580400-72586400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:72580400-72586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:72580400-72586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:72580400-72590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:72580600-72580800	Enhancers	Fetal Lung	lung
22	chr9:72580600-72581200	Enhancers	NH-A	brain
23	chr9:72580600-72582400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:72580600-72582600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:72580600-72584400	Weak transcription	Aorta	Aorta
26	chr9:72580600-72591000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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