Variant report

Variant	rs60694906
Chromosome Location	chr4:58028967-58028968
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55802016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73818639	1.00[AFR][1000 genomes]
rs73818641	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73818699	1.00[AFR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv594207	chr4:57987433-58098554	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58021000-58029000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:58021000-58029000	Weak transcription	NH-A	brain
3	chr4:58023000-58029200	Weak transcription	HMEC	breast
4	chr4:58023000-58029600	Weak transcription	NHEK	skin
5	chr4:58023600-58029800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:58024600-58029400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:58024600-58029600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:58025000-58029600	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:58025200-58029600	Weak transcription	Brain Angular Gyrus	brain
10	chr4:58025200-58029600	Weak transcription	Brain Anterior Caudate	brain
11	chr4:58025200-58029600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:58025200-58029600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:58025200-58029600	Weak transcription	Brain Substantia Nigra	brain
14	chr4:58025400-58029400	Weak transcription	Osteobl	bone
15	chr4:58025800-58029400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:58026000-58029600	Weak transcription	Fetal Heart	heart
17	chr4:58026200-58029200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:58028000-58029600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:58028800-58029600	Enhancers	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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