Variant report

Variant	rs4961650
Chromosome Location	chr9:18481004-18481005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10217409	0.89[EUR][1000 genomes]
rs10217753	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs10738510	0.80[ASN][1000 genomes]
rs10756964	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10810971	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10810973	0.91[ASN][1000 genomes]
rs11793923	0.93[ASN][1000 genomes]
rs1281350	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1281352	0.92[ASN][1000 genomes]
rs1329721	0.85[AMR][1000 genomes]
rs1340040	0.83[AMR][1000 genomes]
rs1832747	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1888067	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2153415	0.91[ASN][1000 genomes]
rs2153416	0.89[ASN][1000 genomes]
rs4961649	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4961651	0.98[ASN][1000 genomes]
rs4961652	0.91[ASN][1000 genomes]
rs4961653	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4961654	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs6475221	0.92[ASN][1000 genomes]
rs7019399	0.92[ASN][1000 genomes]
rs7856703	0.94[ASN][1000 genomes]
rs7864856	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18475200-18484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:18475400-18481600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:18475400-18482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:18476000-18485600	Weak transcription	Fetal Stomach	stomach
5	chr9:18477400-18489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:18477600-18481600	Weak transcription	HUVEC	blood vessel
7	chr9:18478200-18482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:18479000-18485200	Weak transcription	Fetal Heart	heart
9	chr9:18479200-18483200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:18479200-18484600	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:18479200-18490000	Weak transcription	Aorta	Aorta
12	chr9:18479400-18481400	Enhancers	NH-A	brain
13	chr9:18479800-18481800	Genic enhancers	Muscle Satellite Cultured Cells	--
14	chr9:18480400-18481200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:18480400-18481400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:18480400-18483200	Genic enhancers	Osteobl	bone
17	chr9:18480600-18483000	Genic enhancers	NHDF-Ad	bronchial
18	chr9:18480600-18485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:18480800-18481600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:18480800-18485600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:18481000-18481400	Enhancers	NHLF	lung
22	chr9:18481000-18484000	Strong transcription	HSMM	muscle
23	chr9:18481000-18484400	Weak transcription	HSMMtube	muscle

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