Variant report

Variant	rs6475221
Chromosome Location	chr9:18486556-18486557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1006022	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10453192	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10733354	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10738510	0.80[ASN][1000 genomes]
rs10738511	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10810973	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11793923	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1281352	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340039	0.84[EUR][1000 genomes]
rs1417035	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1417037	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1538999	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1832747	0.92[ASN][1000 genomes]
rs1888068	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1888069	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2149875	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2153415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2153416	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2277160	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3898100	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4246142	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4246143	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4590536	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4961650	0.92[ASN][1000 genomes]
rs4961651	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961652	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6475219	0.88[EUR][1000 genomes]
rs6475220	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7019399	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032393	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7036515	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7046502	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7856703	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7864856	0.99[ASN][1000 genomes]
rs7867766	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv892689	chr9:18485434-18537444	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv892690	chr9:18485434-18592374	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18477400-18489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:18479200-18490000	Weak transcription	Aorta	Aorta
3	chr9:18482600-18492200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:18484000-18486800	Genic enhancers	HSMM	muscle
5	chr9:18485400-18488600	Weak transcription	HUVEC	blood vessel
6	chr9:18485800-18487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:18485800-18490800	Weak transcription	Fetal Brain Female	brain
8	chr9:18486000-18486600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:18486000-18487200	Weak transcription	Osteobl	bone
10	chr9:18486000-18487400	Enhancers	NHDF-Ad	bronchial
11	chr9:18486000-18488400	Weak transcription	NH-A	brain
12	chr9:18486000-18488800	Weak transcription	NHLF	lung
13	chr9:18486000-18490000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:18486000-18490000	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:18486000-18490200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:18486000-18490400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:18486200-18486600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:18486200-18487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:18486200-18487400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:18486200-18487600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:18486200-18487600	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:18486200-18488600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:18486200-18490000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:18486200-18490000	Weak transcription	Fetal Stomach	stomach
25	chr9:18486200-18490800	Weak transcription	Fetal Lung	lung
26	chr9:18486400-18487400	Weak transcription	Fetal Heart	heart
27	chr9:18486400-18488800	Weak transcription	HSMMtube	muscle

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