Variant report

Variant	rs56946519
Chromosome Location	chr7:18870994-18870995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16872139	1.00[EUR][1000 genomes]
rs17140166	1.00[EUR][1000 genomes]
rs17140220	1.00[EUR][1000 genomes]
rs58507095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59951772	1.00[EUR][1000 genomes]
rs60383654	1.00[EUR][1000 genomes]
rs60765366	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61141393	1.00[EUR][1000 genomes]
rs73312685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73312695	1.00[EUR][1000 genomes]
rs73320004	1.00[EUR][1000 genomes]
rs73320006	1.00[EUR][1000 genomes]
rs73320021	1.00[EUR][1000 genomes]
rs73320029	1.00[EUR][1000 genomes]
rs73320042	1.00[EUR][1000 genomes]
rs73320054	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18854000-18874400	Weak transcription	Aorta	Aorta
2	chr7:18866800-18885200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:18867200-18882400	Weak transcription	Left Ventricle	heart
4	chr7:18868200-18879400	Weak transcription	HSMMtube	muscle
5	chr7:18868800-18887400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:18869000-18871200	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:18869400-18871200	Enhancers	Adipose Nuclei	Adipose
8	chr7:18869600-18874400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:18869800-18874200	Weak transcription	Fetal Lung	lung
10	chr7:18870000-18871200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:18870000-18874200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:18870000-18874400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:18870000-18874400	Weak transcription	Fetal Stomach	stomach
14	chr7:18870000-18874600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:18870000-18874600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:18870200-18871400	Weak transcription	HMEC	breast
17	chr7:18870600-18871000	Weak transcription	NHDF-Ad	bronchial
18	chr7:18870600-18874200	Weak transcription	Fetal Kidney	kidney
19	chr7:18870800-18871400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:18870800-18871600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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