Variant report

Variant	rs56051240
Chromosome Location	chr14:70059584-70059585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70058651..70060501-chr14:70232212..70234500,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[EUR][1000 genomes]
rs55870632	1.00[AMR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[EUR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503693	1.00[EUR][1000 genomes]
rs58583730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60876803	1.00[AMR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[EUR][1000 genomes]
rs7148016	1.00[AMR][1000 genomes]
rs73293376	1.00[EUR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060220	1.00[EUR][1000 genomes]
rs74060234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060251	1.00[EUR][1000 genomes]
rs74060252	1.00[EUR][1000 genomes]
rs74060256	1.00[EUR][1000 genomes]
rs74060258	1.00[EUR][1000 genomes]
rs74060261	1.00[EUR][1000 genomes]
rs74060263	1.00[EUR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014375	1.00[AMR][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	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
2	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70054200-70059600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:70054400-70059800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:70058000-70060200	Enhancers	Fetal Stomach	stomach
6	chr14:70058200-70060200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:70058400-70059800	Weak transcription	Fetal Brain Female	brain
8	chr14:70058600-70060000	Weak transcription	Fetal Brain Male	brain
9	chr14:70058800-70060000	Weak transcription	Fetal Thymus	thymus
10	chr14:70059000-70059600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:70059200-70059600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:70059200-70060000	Enhancers	Fetal Muscle Trunk	muscle
13	chr14:70059200-70061000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:70059200-70061800	Enhancers	Fetal Muscle Leg	muscle
15	chr14:70059400-70059800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:70059400-70059800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:70059400-70059800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:70059400-70060000	Enhancers	HSMMtube	muscle
19	chr14:70059400-70060600	Enhancers	Brain Substantia Nigra	brain
20	chr14:70059400-70060600	Enhancers	Fetal Lung	lung
21	chr14:70059400-70061000	Enhancers	Placenta	Placenta

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