Variant report

Variant	rs41279104
Chromosome Location	chr12:117877485-117877486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10507280	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10850827	0.84[AFR][1000 genomes]
rs11068499	0.81[AMR][1000 genomes]
rs11068500	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12302697	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12311157	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12312120	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12316771	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320449	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17618096	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34731287	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs900623	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv528231	chr12:117877110-117879236	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	lncRNA	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	chr12:117874400-117880400	Enhancers	Fetal Muscle Leg	muscle
2	chr12:117875400-117877800	Enhancers	Brain Angular Gyrus	brain
3	chr12:117875400-117878800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:117875800-117878000	Enhancers	Brain Germinal Matrix	brain
5	chr12:117875800-117878600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr12:117876200-117877800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:117876600-117877600	Enhancers	Brain Substantia Nigra	brain
8	chr12:117876600-117877800	Enhancers	Brain Hippocampus Middle	brain
9	chr12:117876600-117879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:117876800-117878000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:117876800-117878800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr12:117877200-117877600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr12:117877200-117877800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:117877200-117877800	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:117877200-117878000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:117877400-117877600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:117877400-117878000	Active TSS	Psoas Muscle	Psoas
18	chr12:117877400-117879200	Weak transcription	Brain Anterior Caudate	brain
19	chr12:117877400-117888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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