Variant report

Variant	rs74081917
Chromosome Location	chr12:46695634-46695635
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:13)

rs_ID	r²[population]
rs56818305	0.90[AFR][1000 genomes]
rs58015896	0.90[AFR][1000 genomes]
rs59268437	0.85[AFR][1000 genomes]
rs7311320	0.95[AFR][1000 genomes]
rs74081935	0.90[AFR][1000 genomes]
rs74081980	0.90[AFR][1000 genomes]
rs74081983	0.90[AFR][1000 genomes]
rs74081996	0.85[AFR][1000 genomes]
rs74082091	0.95[AFR][1000 genomes]
rs74082100	0.95[AFR][1000 genomes]
rs74084027	0.95[AFR][1000 genomes]
rs74084032	0.85[AFR][1000 genomes]
rs7965500	0.95[AFR][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46693600-46695800	Enhancers	HSMM	muscle
2	chr12:46693600-46696000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:46693600-46698000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:46693800-46698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:46694400-46696000	Enhancers	Fetal Muscle Leg	muscle
6	chr12:46694600-46695800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:46695200-46697200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:46695200-46697800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:46695200-46697800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:46695200-46697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:46695200-46698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:46695400-46695800	Weak transcription	Fetal Stomach	stomach
13	chr12:46695600-46696200	Enhancers	Fetal Muscle Trunk	muscle

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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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