Variant report

Variant	rs9966932
Chromosome Location	chr18:7689368-7689369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10163896	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10502359	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10853357	0.82[CHB][hapmap];0.82[YRI][hapmap]
rs12165070	0.92[ASN][1000 genomes]
rs1446078	0.82[CHB][hapmap]
rs1530515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16952383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16952451	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs16952467	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs16952487	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs2027671	0.88[ASN][1000 genomes]
rs2121189	0.87[ASN][1000 genomes]
rs4121619	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4121621	1.00[CHB][hapmap]
rs4277420	0.83[EUR][1000 genomes]
rs4424981	0.88[ASN][1000 genomes]
rs4429368	0.88[ASN][1000 genomes]
rs4455047	0.82[CHB][hapmap];0.91[YRI][hapmap]
rs4798587	0.90[CHB][hapmap];0.82[YRI][hapmap]
rs597736	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs60336960	0.88[ASN][1000 genomes]
rs6506530	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs664040	0.87[ASN][1000 genomes]
rs7228006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7229937	0.88[ASN][1000 genomes]
rs7230507	0.88[ASN][1000 genomes]
rs7230553	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7230840	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7230847	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7230935	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7236636	0.92[ASN][1000 genomes]
rs7243127	0.88[ASN][1000 genomes]
rs7244457	0.88[ASN][1000 genomes]
rs7244628	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7244983	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7245239	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs727037	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs73391505	0.92[ASN][1000 genomes]
rs73391515	0.92[ASN][1000 genomes]
rs73391519	0.91[ASN][1000 genomes]
rs73391522	0.92[ASN][1000 genomes]
rs73391531	0.88[ASN][1000 genomes]
rs73391550	0.92[ASN][1000 genomes]
rs73391563	0.92[ASN][1000 genomes]
rs73391582	0.85[ASN][1000 genomes]
rs8084932	0.92[ASN][1000 genomes]
rs8085131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8089176	0.88[ASN][1000 genomes]
rs8089769	0.88[ASN][1000 genomes]
rs8093450	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs8095773	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs9956070	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9964890	0.82[CHB][hapmap];0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv909358	chr18:7685307-7693309	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv458017	chr18:7689201-7747873	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv576420	chr18:7689201-7747873	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7683200-7696600	Weak transcription	Fetal Lung	lung
2	chr18:7684200-7693800	Weak transcription	Lung	lung
3	chr18:7684200-7696600	Weak transcription	Right Atrium	heart
4	chr18:7684200-7712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:7685200-7694000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:7686000-7689400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:7686200-7691400	Weak transcription	Right Ventricle	heart
8	chr18:7688200-7689600	Enhancers	Left Ventricle	heart
9	chr18:7688200-7689800	Enhancers	Psoas Muscle	Psoas
10	chr18:7688800-7689400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr18:7688800-7689400	Weak transcription	Small Intestine	intestine
12	chr18:7688800-7698000	Weak transcription	Aorta	Aorta
13	chr18:7689000-7691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:7689200-7689400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:7689200-7689800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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