Variant report

Variant	rs73383849
Chromosome Location	chr18:7986821-7986822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7986635..7988175-chr18:7990212..7991772,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs73379994	1.00[AMR][1000 genomes]
rs73379995	1.00[AMR][1000 genomes]
rs73381820	1.00[AMR][1000 genomes]
rs73381826	1.00[AMR][1000 genomes]
rs73381899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8097950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	esv3420598	chr18:7983977-7986825	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7959000-7987400	Weak transcription	Ovary	ovary
2	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:7966000-7989600	Weak transcription	Lung	lung
4	chr18:7981200-7995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:7983200-7987000	Weak transcription	NH-A	brain
6	chr18:7985800-7987000	Enhancers	Brain Anterior Caudate	brain
7	chr18:7985800-7987000	Enhancers	Brain Substantia Nigra	brain
8	chr18:7985800-7987200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7986200-7987800	Enhancers	Fetal Heart	heart
10	chr18:7986400-7987000	Enhancers	Aorta	Aorta
11	chr18:7986400-7987200	Enhancers	Left Ventricle	heart
12	chr18:7986400-7988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:7986400-7988200	Enhancers	NHDF-Ad	bronchial
14	chr18:7986600-7988000	Enhancers	Osteobl	bone
15	chr18:7986600-7988200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:7986800-7987400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:7986800-7987800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:7986800-7987800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:7986800-7987800	Enhancers	A549	lung
20	chr18:7986800-7988200	Enhancers	Muscle Satellite Cultured Cells	--

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