Variant report

Variant	rs58480554
Chromosome Location	chr10:49733721-49733722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:49732506-49735617	U87	brain:	n/a	n/a
2	POLR2A	chr10:49732512-49735548	U87	brain:	n/a	n/a
3	POLR2A	chr10:49733717-49733789	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49733272..49735017-chr10:49739777..49742233,3	K562	blood:
2	chr10:49732450..49736073-chr10:49745484..49747337,3	K562	blood:
3	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
4	chr10:49677603..49679164-chr10:49733692..49735615,2	K562	blood:
5	chr10:49639013..49641362-chr10:49732442..49734428,2	K562	blood:

No data

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1550775	1.00[AMR][1000 genomes]
rs28414616	1.00[AMR][1000 genomes]
rs56792058	1.00[AMR][1000 genomes]
rs57417026	1.00[AMR][1000 genomes]
rs60236086	1.00[AMR][1000 genomes]
rs60709722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7088262	1.00[AMR][1000 genomes]
rs73298212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303075	1.00[AMR][1000 genomes]
rs74130585	1.00[AMR][1000 genomes]
rs7893181	1.00[AMR][1000 genomes]
rs7899637	1.00[AMR][1000 genomes]
rs7911933	1.00[AMR][1000 genomes]
rs7916864	1.00[AMR][1000 genomes]
rs9732742	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49731600-49734200	Weak transcription	Fetal Kidney	kidney
2	chr10:49731600-49734200	Weak transcription	Fetal Lung	lung
3	chr10:49731800-49733800	Weak transcription	Brain Substantia Nigra	brain
4	chr10:49732000-49734000	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:49732200-49734000	Weak transcription	HSMMtube	muscle
6	chr10:49732200-49750800	Weak transcription	Gastric	stomach
7	chr10:49732400-49733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:49732400-49733800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:49732400-49734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:49732400-49734200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr10:49732400-49734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:49732400-49734200	Weak transcription	Brain Anterior Caudate	brain
13	chr10:49732600-49734000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:49732600-49734200	Weak transcription	HMEC	breast
15	chr10:49732600-49735200	Weak transcription	Pancreas	Pancrea
16	chr10:49732800-49733800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:49732800-49733800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:49732800-49733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:49732800-49733800	Weak transcription	NH-A	brain
20	chr10:49732800-49734000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:49732800-49734000	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr10:49732800-49734000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:49732800-49734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:49732800-49734000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:49732800-49734000	Weak transcription	Ovary	ovary
26	chr10:49732800-49734000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:49732800-49734000	Enhancers	NHDF-Ad	bronchial
28	chr10:49732800-49734000	Enhancers	Osteobl	bone
29	chr10:49732800-49734200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:49732800-49734200	Weak transcription	Brain Angular Gyrus	brain
31	chr10:49732800-49734200	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:49732800-49734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:49732800-49734400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:49732800-49735000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:49732800-49736200	Enhancers	HUVEC	blood vessel
36	chr10:49732800-49736800	Weak transcription	Right Atrium	heart
37	chr10:49732800-49742000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:49733000-49734000	Weak transcription	K562	blood
39	chr10:49733200-49734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:49733400-49733800	Weak transcription	HSMM	muscle
41	chr10:49733400-49734000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:49733600-49734000	Enhancers	NHLF	lung

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