Variant report

Variant	rs7658543
Chromosome Location	chr4:55265737-55265738
allele	A/C/T
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:14)

rs_ID	r²[population]
rs10434430	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11724169	0.88[ASN][1000 genomes]
rs12508075	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1396066	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1507970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17693493	0.89[AMR][1000 genomes]
rs17749557	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1911682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1966783	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56081664	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs71597875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7660076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7660758	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7663358	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv4344	chr4:55260607-55305235	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55264200-55267600	Enhancers	Fetal Stomach	stomach
2	chr4:55264400-55268400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:55264600-55265800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:55264600-55266000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:55264600-55267600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:55265000-55266400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:55265000-55266800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:55265200-55266000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:55265200-55266200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:55265200-55266200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:55265200-55267000	Weak transcription	Fetal Brain Male	brain
12	chr4:55265200-55267200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:55265200-55267200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:55265400-55266400	Weak transcription	Brain Anterior Caudate	brain
15	chr4:55265400-55267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:55265400-55267000	Weak transcription	Osteobl	bone
17	chr4:55265400-55267400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:55265600-55266200	Weak transcription	Brain Substantia Nigra	brain
19	chr4:55265600-55266800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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