Variant report

Variant	rs7231185
Chromosome Location	chr18:11327227-11327228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12326594	1.00[EUR][1000 genomes]
rs12327533	1.00[EUR][1000 genomes]
rs1455246	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16976151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976152	1.00[ASN][1000 genomes]
rs16976153	1.00[ASN][1000 genomes]
rs1874772	0.97[ASN][1000 genomes]
rs2124228	0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28380540	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28406157	0.97[ASN][1000 genomes]
rs28496831	0.97[ASN][1000 genomes]
rs28505571	1.00[ASN][1000 genomes]
rs28713321	0.97[ASN][1000 genomes]
rs28762125	0.97[ASN][1000 genomes]
rs36057401	0.97[ASN][1000 genomes]
rs57090259	1.00[EUR][1000 genomes]
rs58092154	1.00[EUR][1000 genomes]
rs59591408	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60194051	1.00[EUR][1000 genomes]
rs7230024	0.97[ASN][1000 genomes]
rs7231039	1.00[EUR][1000 genomes]
rs73401675	1.00[EUR][1000 genomes]
rs73402984	1.00[ASN][1000 genomes]
rs73402985	1.00[ASN][1000 genomes]
rs8092521	0.97[ASN][1000 genomes]
rs8092523	0.97[ASN][1000 genomes]
rs8094486	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8094727	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8095281	0.97[ASN][1000 genomes]
rs902969	0.97[ASN][1000 genomes]
rs902970	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9950278	0.97[ASN][1000 genomes]
rs9950284	0.90[ASN][1000 genomes]
rs9951023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9953018	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9955801	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9956107	0.97[ASN][1000 genomes]
rs9956498	0.97[ASN][1000 genomes]
rs9959689	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9963723	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9964195	0.97[ASN][1000 genomes]
rs9964199	0.97[ASN][1000 genomes]
rs9964337	0.97[ASN][1000 genomes]
rs9965049	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv833589	chr18:11293101-11454521	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11320200-11328200	Enhancers	NHDF-Ad	bronchial
2	chr18:11321000-11327400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:11322800-11327800	Enhancers	NHLF	lung
4	chr18:11323000-11328200	Enhancers	HSMM	muscle
5	chr18:11323000-11328200	Enhancers	HSMMtube	muscle
6	chr18:11323200-11328200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:11323400-11328000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:11324600-11328200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr18:11325400-11327400	Weak transcription	Fetal Heart	heart
10	chr18:11325400-11328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:11325400-11328200	Enhancers	Osteobl	bone
12	chr18:11325400-11333000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:11325800-11328000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:11325800-11328200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:11325800-11328200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr18:11326600-11327400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:11327000-11327400	Weak transcription	NH-A	brain
18	chr18:11327000-11328200	Enhancers	Fetal Muscle Leg	muscle
19	chr18:11327200-11327400	Enhancers	Adipose Nuclei	Adipose
20	chr18:11327200-11327800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:11327200-11328000	Enhancers	Brain Germinal Matrix	brain

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