Variant report

Variant	rs9963051
Chromosome Location	chr18:7788765-7788766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10502360	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1446083	1.00[JPT][hapmap]
rs1940350	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2155524	0.83[ASN][1000 genomes]
rs28583239	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227507	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7232461	1.00[JPT][hapmap]
rs7233842	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7242450	0.94[ASN][1000 genomes]
rs746128	0.83[ASN][1000 genomes]
rs867902	0.80[ASN][1000 genomes]
rs875530	0.80[ASN][1000 genomes]
rs9946476	1.00[JPT][hapmap]
rs9949027	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9953664	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7761800-7789400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
3	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
4	chr18:7772200-7789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:7774000-7790000	Weak transcription	Psoas Muscle	Psoas
6	chr18:7778800-7789400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:7778800-7790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:7779400-7790000	Weak transcription	Hela-S3	cervix
9	chr18:7785000-7789600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr18:7785000-7789600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:7785200-7789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:7785200-7789400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:7785200-7789600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:7785200-7790000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:7785600-7790400	Weak transcription	Fetal Brain Male	brain
16	chr18:7786400-7789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:7786600-7791800	Enhancers	A549	lung
18	chr18:7787200-7790200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:7787600-7790400	Weak transcription	Lung	lung
20	chr18:7787600-7794800	Weak transcription	Right Atrium	heart
21	chr18:7787600-7797000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr18:7787600-7798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:7787600-7804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:7787800-7789200	Weak transcription	Left Ventricle	heart
25	chr18:7787800-7796400	Weak transcription	Right Ventricle	heart
26	chr18:7787800-7806600	Weak transcription	Thymus	Thymus
27	chr18:7788000-7790200	Weak transcription	Fetal Thymus	thymus
28	chr18:7788200-7789400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:7788200-7789600	Weak transcription	Fetal Heart	heart
30	chr18:7788600-7789000	Enhancers	Liver	Liver
31	chr18:7788600-7789200	Enhancers	HepG2	liver

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