Variant report

Variant	rs74130489
Chromosome Location	chr1:183949758-183949759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:183947733..183950013-chr1:183997386..184000802,4	K562	blood:
2	chr1:183948339..183950247-chr1:183954738..183957083,2	K562	blood:
3	chr1:183943394..183945355-chr1:183948434..183952348,4	K562	blood:
4	chr1:183947107..183949953-chr1:184005181..184007501,2	K562	blood:
5	chr1:183943457..183945002-chr1:183948434..183950269,2	K562	blood:
6	chr1:183947929..183952314-chr1:184019295..184023584,6	K562	blood:
7	chr1:183949335..183951538-chr1:184016784..184019314,2	K562	blood:

No data

No data

No data

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

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

rs_ID	r²[population]
rs6696539	1.00[AFR][1000 genomes]
rs74130437	0.82[AFR][1000 genomes]
rs74130438	0.82[AFR][1000 genomes]
rs74130439	0.82[AFR][1000 genomes]
rs74130488	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:19 , 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	chr1:183948600-183951600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:183948800-183949800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:183948800-183951200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:183948800-183951200	Weak transcription	K562	blood
14	chr1:183948800-183951400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:183948800-183952000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:183949000-183952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:183949400-183950600	Weak transcription	Right Atrium	heart
18	chr1:183949600-183950000	Enhancers	Brain Substantia Nigra	brain
19	chr1:183949600-183950200	Enhancers	Brain Hippocampus Middle	brain

Quick Search:

Input of quick search could be:

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

what's new

Quick links