Variant report

Variant	rs73251191
Chromosome Location	chr5:114846577-114846578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114840340..114842115-chr5:114845150..114846853,2	K562	blood:
2	chr5:114845762..114847363-chr5:114855311..114858213,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73251175	0.85[AFR][1000 genomes]
rs73251180	1.00[AFR][1000 genomes]
rs73251187	1.00[AFR][1000 genomes]
rs73251189	1.00[AFR][1000 genomes]
rs73251194	0.94[AFR][1000 genomes]
rs73251195	1.00[AFR][1000 genomes]
rs73251200	1.00[AFR][1000 genomes]
rs73251202	0.90[AFR][1000 genomes]
rs73253004	1.00[AFR][1000 genomes]
rs73253008	1.00[AFR][1000 genomes]
rs73253009	1.00[AFR][1000 genomes]
rs73253016	1.00[AFR][1000 genomes]
rs73253018	1.00[AFR][1000 genomes]
rs73254564	0.83[AFR][1000 genomes]
rs73254581	0.83[AFR][1000 genomes]
rs7730778	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr5:114843200-114854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114843200-114858800	Weak transcription	Left Ventricle	heart
3	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114844000-114847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:114844000-114859000	Weak transcription	HSMMtube	muscle
6	chr5:114844200-114848000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:114844200-114849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:114844200-114853200	Weak transcription	NHDF-Ad	bronchial
9	chr5:114844200-114854200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:114844200-114855000	Weak transcription	HSMM	muscle
11	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:114844200-114859800	Weak transcription	Osteobl	bone
14	chr5:114844800-114846600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:114845400-114853400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
18	chr5:114845800-114846800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:114846200-114846800	Enhancers	Brain Anterior Caudate	brain
20	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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