Variant report

Variant	rs12340850
Chromosome Location	chr9:72558641-72558642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72554296..72556311-chr9:72558075..72560208,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1013272	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10156645	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1032413	0.89[EUR][1000 genomes]
rs1032414	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10511976	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10511977	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11140833	0.81[AMR][1000 genomes]
rs11140836	0.89[EUR][1000 genomes]
rs11140842	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11140862	0.81[AMR][1000 genomes]
rs11140864	0.81[AMR][1000 genomes]
rs11140879	0.95[EUR][1000 genomes]
rs11140890	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11140986	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141038	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11141039	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11141040	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11141043	0.93[AMR][1000 genomes]
rs11141049	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12335359	0.81[AMR][1000 genomes]
rs12339764	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342567	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12342648	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342964	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12343259	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12343759	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343851	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344385	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12344550	0.89[EUR][1000 genomes]
rs12345448	1.00[ASN][1000 genomes]
rs12345929	0.89[EUR][1000 genomes]
rs12347023	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12347970	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349451	0.89[EUR][1000 genomes]
rs12349644	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350185	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12350231	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12352875	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1493053	0.89[EUR][1000 genomes]
rs1948427	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28799079	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637911	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708059	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55833239	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56198641	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56336865	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57482063	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59220396	0.81[AMR][1000 genomes]
rs59269830	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72709145	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72709155	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72709188	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72725226	0.81[AMR][1000 genomes]
rs72725252	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725262	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72725264	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7853925	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855138	0.97[EUR][1000 genomes]
rs7872102	0.89[EUR][1000 genomes]
rs7872485	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv893439	chr9:72500956-72568962	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1043276	chr9:72522231-72571726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72556400-72559800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr9:72556400-72559800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr9:72557400-72559200	Enhancers	NHDF-Ad	bronchial
4	chr9:72558400-72559000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:72558600-72560200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:72558600-72560400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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