Variant report

Variant	rs60275794
Chromosome Location	chr12:48418710-48418711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11168351	0.91[ASN][1000 genomes]
rs12579815	1.00[EUR][1000 genomes]
rs12580309	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581263	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12819124	0.90[ASN][1000 genomes]
rs17122615	1.00[EUR][1000 genomes]
rs17122617	1.00[EUR][1000 genomes]
rs1814231	1.00[EUR][1000 genomes]
rs41272785	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41369448	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74086499	0.85[AFR][1000 genomes]
rs74086502	0.85[AFR][1000 genomes]
rs74090304	0.85[AFR][1000 genomes]
rs915920	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr12:48415800-48420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:48416800-48423400	Weak transcription	Right Atrium	heart
3	chr12:48417400-48419000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:48417600-48420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:48417800-48419200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:48417800-48421400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:48417800-48423400	Weak transcription	Fetal Lung	lung
8	chr12:48418000-48419000	Weak transcription	HepG2	liver
9	chr12:48418000-48420200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:48418000-48422200	Weak transcription	Fetal Heart	heart
11	chr12:48418200-48422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:48418200-48424200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48418400-48419600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:48418400-48425800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:48418600-48418800	Enhancers	Right Ventricle	heart
16	chr12:48418600-48418800	Enhancers	K562	blood
17	chr12:48418600-48419400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:48418600-48421000	Enhancers	Fetal Intestine Small	intestine
19	chr12:48418600-48425200	Enhancers	Fetal Intestine Large	intestine

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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

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