Variant report

Variant	rs1953348
Chromosome Location	chr9:21689448-21689449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16938530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938531	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938541	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938544	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73435650	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73435661	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73435664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015623	chr9:21579110-21694039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv892742	chr9:21589041-21707372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892743	chr9:21675545-21772064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21680400-21691000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:21685200-21691000	Enhancers	Hela-S3	cervix
3	chr9:21685200-21695600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:21685800-21690200	Enhancers	HUVEC	blood vessel
5	chr9:21686000-21691000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:21687200-21689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:21688000-21689600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:21688000-21689800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:21688400-21689800	Enhancers	Stomach Mucosa	stomach
10	chr9:21688400-21696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:21688800-21690200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:21688800-21690200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:21688800-21690200	Flanking Active TSS	A549	lung
14	chr9:21688800-21691000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:21688800-21691000	Enhancers	HSMM	muscle
16	chr9:21688800-21691000	Enhancers	NH-A	brain
17	chr9:21688800-21691000	Enhancers	NHEK	skin
18	chr9:21688800-21691000	Enhancers	NHLF	lung
19	chr9:21688800-21691000	Enhancers	Osteobl	bone
20	chr9:21688800-21691400	Enhancers	HMEC	breast
21	chr9:21688800-21691600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:21689000-21691000	Enhancers	NHDF-Ad	bronchial
23	chr9:21689200-21690000	Enhancers	HSMMtube	muscle
24	chr9:21689400-21689600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:21689400-21689600	Enhancers	Colon Smooth Muscle	Colon
26	chr9:21689400-21689800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:21689400-21690000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:21689400-21691000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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