Variant report

Variant	rs74130488
Chromosome Location	chr1:183948701-183948702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6696539	0.82[AFR][1000 genomes]
rs74130437	1.00[AFR][1000 genomes]
rs74130438	1.00[AFR][1000 genomes]
rs74130439	1.00[AFR][1000 genomes]
rs74130489	0.82[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	nsv832026	chr1:183785065-183961847	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers 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 miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183920200-183952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:183923200-183961000	Weak transcription	Pancreas	Pancrea
4	chr1:183926600-183952200	Weak transcription	NHLF	lung
5	chr1:183938000-183952200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:183938400-183952200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:183938600-183952800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:183941400-183951200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:183945000-183952400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:183946800-183948800	Enhancers	Brain Hippocampus Middle	brain
11	chr1:183947400-183948800	Enhancers	K562	blood
12	chr1:183948000-183949600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:183948200-183948800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:183948200-183948800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:183948200-183948800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:183948400-183948800	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:183948600-183948800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:183948600-183951600	Weak transcription	Brain Angular Gyrus	brain

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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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