Variant report

Variant	rs1329720
Chromosome Location	chr9:18480000-18480001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1006022	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs10123481	0.82[ASN][1000 genomes]
rs10217753	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs10453192	0.85[ASN][1000 genomes]
rs10756963	0.85[EUR][1000 genomes]
rs10810970	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10810972	0.84[ASN][1000 genomes]
rs10810974	0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1340043	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1341063	0.86[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1417037	0.82[CHB][hapmap]
rs1538999	0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs16936745	0.82[CHB][hapmap]
rs16936779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1832638	0.81[ASN][1000 genomes]
rs1832747	0.80[CHD][hapmap]
rs1888067	0.82[CHB][hapmap]
rs1888068	0.86[CHB][hapmap]
rs1888069	0.86[CHB][hapmap]
rs1999174	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2000047	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2149875	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2277160	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs34619899	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4961653	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs4961654	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs6475220	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7036515	0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7864622	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7864727	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7867766	0.82[CHB][hapmap]

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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18474800-18480200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:18475200-18484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:18475400-18481600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:18475400-18482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:18476000-18485600	Weak transcription	Fetal Stomach	stomach
6	chr9:18477400-18489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:18477600-18481600	Weak transcription	HUVEC	blood vessel
8	chr9:18478200-18482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:18478400-18480400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:18478600-18480000	Enhancers	NHLF	lung
11	chr9:18478800-18480400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:18478800-18480400	Enhancers	Osteobl	bone
13	chr9:18479000-18485200	Weak transcription	Fetal Heart	heart
14	chr9:18479200-18480200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:18479200-18480400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:18479200-18483200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:18479200-18484600	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:18479200-18490000	Weak transcription	Aorta	Aorta
19	chr9:18479400-18480600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:18479400-18481000	Enhancers	HSMMtube	muscle
21	chr9:18479400-18481400	Enhancers	NH-A	brain
22	chr9:18479600-18480000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:18479800-18480000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:18479800-18480200	Genic enhancers	NHDF-Ad	bronchial
25	chr9:18479800-18480600	Enhancers	Brain Substantia Nigra	brain
26	chr9:18479800-18481000	Genic enhancers	HSMM	muscle
27	chr9:18479800-18481800	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr9:18480000-18480400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:18480000-18480600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:18480000-18481000	ZNF genes & repeats	NHLF	lung

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