Variant report

Variant	rs56992415
Chromosome Location	chr9:18969129-18969130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10511664	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10511665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10511666	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1932450	0.82[ASN][1000 genomes]
rs1932455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2209777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225127	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35957033	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4607710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56903563	0.82[ASN][1000 genomes]
rs57534858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59467044	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60784683	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6475278	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6475290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7019174	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7023291	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7023999	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7024276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7024570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7025178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7025316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7028777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7029021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7039445	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7041516	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7043607	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7044023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7048093	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73431244	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73431256	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73433251	0.92[ASN][1000 genomes]
rs73645547	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73645550	0.92[ASN][1000 genomes]
rs73645556	0.92[ASN][1000 genomes]
rs73648805	0.82[ASN][1000 genomes]
rs73648807	0.91[ASN][1000 genomes]
rs73648809	0.91[ASN][1000 genomes]
rs73648810	0.91[ASN][1000 genomes]
rs73648811	0.91[ASN][1000 genomes]
rs73648812	0.91[ASN][1000 genomes]
rs73648814	0.91[ASN][1000 genomes]
rs73648815	0.91[ASN][1000 genomes]
rs73648816	0.91[ASN][1000 genomes]
rs7847488	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7851358	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7858792	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7862966	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7863544	0.92[ASN][1000 genomes]
rs7866883	0.82[ASN][1000 genomes]
rs7872487	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv892699	chr9:18945868-19025693	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1022697	chr9:18951530-19010894	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18968000-18971400	Enhancers	Fetal Muscle Leg	muscle
2	chr9:18968000-18972600	Enhancers	Fetal Stomach	stomach
3	chr9:18968200-18970000	Weak transcription	Esophagus	oesophagus
4	chr9:18968600-18970200	Enhancers	Fetal Thymus	thymus
5	chr9:18968800-18969200	Enhancers	Ovary	ovary
6	chr9:18968800-18972000	Enhancers	Fetal Heart	heart
7	chr9:18968800-18972400	Enhancers	Fetal Lung	lung
8	chr9:18969000-18970000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:18969000-18970400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:18969000-18970600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:18969000-18971400	Enhancers	Left Ventricle	heart

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