Variant report

Variant	rs9620948
Chromosome Location	chr22:30512918-30512919
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	chr22:30510772..30513351-chr22:30653868..30656059,2	MCF-7	breast:
2	chr22:30507793..30510712-chr22:30511298..30514202,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10222281	0.87[AMR][1000 genomes]
rs10483158	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11090591	0.87[AMR][1000 genomes]
rs11090592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11090597	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090600	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11090601	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11704206	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11704885	0.87[AMR][1000 genomes]
rs11705048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11705207	0.88[AMR][1000 genomes]
rs11705418	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12165769	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs12166755	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12166998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12169403	0.87[CEU][hapmap]
rs12169823	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs12330007	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12330076	0.82[AMR][1000 genomes]
rs12627856	0.81[AMR][1000 genomes]
rs12627944	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17647135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28635872	0.81[AMR][1000 genomes]
rs34647160	0.87[AMR][1000 genomes]
rs3788425	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs5997567	1.00[ASN][1000 genomes]
rs737905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs737906	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs737907	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs739615	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs916782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9614123	1.00[JPT][hapmap]
rs9620928	0.81[AMR][1000 genomes]
rs9620929	0.81[AMR][1000 genomes]
rs9620935	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs9620936	0.90[AMR][1000 genomes]
rs9620944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9620955	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625886	0.81[AMR][1000 genomes]
rs9625887	0.81[AMR][1000 genomes]
rs9625889	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625894	0.87[AMR][1000 genomes]
rs9625895	0.87[AMR][1000 genomes]
rs9625896	0.87[AMR][1000 genomes]
rs9625899	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9625910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9625922	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625924	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr22:30510600-30513000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:30511200-30513600	Enhancers	Fetal Intestine Small	intestine
3	chr22:30511200-30514400	Enhancers	Fetal Intestine Large	intestine
4	chr22:30511600-30513200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:30511800-30513000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:30511800-30513000	Enhancers	NH-A	brain
7	chr22:30511800-30513000	Enhancers	NHLF	lung
8	chr22:30511800-30513200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:30511800-30513200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr22:30511800-30513200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:30511800-30513200	Enhancers	Osteobl	bone
12	chr22:30511800-30513400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:30511800-30513400	Enhancers	HMEC	breast
14	chr22:30511800-30513400	Enhancers	HSMM	muscle
15	chr22:30511800-30513400	Enhancers	HSMMtube	muscle
16	chr22:30512000-30513400	Enhancers	NHEK	skin
17	chr22:30512200-30513000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:30512200-30513000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30512200-30513200	Enhancers	Hela-S3	cervix
20	chr22:30512200-30513200	Enhancers	HepG2	liver
21	chr22:30512400-30513000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:30512600-30513400	Enhancers	A549	lung
23	chr22:30512600-30514000	Weak transcription	Fetal Lung	lung
24	chr22:30512800-30513000	Bivalent Enhancer	NHDF-Ad	bronchial

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