Variant report

Variant	rs7232461
Chromosome Location	chr18:7792267-7792268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10502359	1.00[GIH][hapmap]
rs10502360	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1446083	0.82[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs16952467	1.00[GIH][hapmap]
rs16952487	1.00[GIH][hapmap]
rs1940350	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs28502140	1.00[ASN][1000 genomes]
rs28669857	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4328523	1.00[GIH][hapmap]
rs4798593	0.81[CHB][hapmap]
rs58863549	1.00[ASN][1000 genomes]
rs59007236	1.00[ASN][1000 genomes]
rs607396	0.90[CHB][hapmap]
rs6506530	1.00[GIH][hapmap]
rs680780	0.90[CHB][hapmap]
rs7227507	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7230553	1.00[GIH][hapmap]
rs7230840	1.00[GIH][hapmap]
rs7233842	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7244983	1.00[GIH][hapmap]
rs73939363	0.87[ASN][1000 genomes]
rs73939373	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946476	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9949027	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs9953664	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963051	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 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	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
2	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
3	chr18:7787600-7794800	Weak transcription	Right Atrium	heart
4	chr18:7787600-7797000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:7787600-7798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:7787600-7804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:7787800-7796400	Weak transcription	Right Ventricle	heart
8	chr18:7787800-7806600	Weak transcription	Thymus	Thymus
9	chr18:7789800-7804000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:7790400-7793800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:7790400-7793800	Weak transcription	Psoas Muscle	Psoas
12	chr18:7790400-7795400	Weak transcription	Brain Anterior Caudate	brain
13	chr18:7790400-7802000	Weak transcription	HepG2	liver
14	chr18:7790600-7793600	Weak transcription	Lung	lung
15	chr18:7790600-7794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:7790600-7794800	Weak transcription	Left Ventricle	heart
17	chr18:7790600-7795400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:7790600-7796400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:7790600-7813400	Weak transcription	Fetal Thymus	thymus
20	chr18:7790800-7792600	Weak transcription	Hela-S3	cervix
21	chr18:7791000-7797200	Weak transcription	Fetal Heart	heart
22	chr18:7791200-7807800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:7791800-7797400	Weak transcription	A549	lung

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