Variant report

Variant	rs542415700
Chromosome Location	chr12:44394505-44394506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv20512	chr12:44394412-44399214	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
7	chr12:44394000-44394600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44394400-44394600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:44394400-44394800	Enhancers	HepG2	liver
10	chr12:44394400-44394800	Enhancers	HMEC	breast
11	chr12:44394400-44394800	Enhancers	NHEK	skin

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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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