Variant report

Variant	rs543916291
Chromosome Location	chr12:119479313-119479314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041602	chr12:119472215-119499329	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2753824	chr12:119479046-119498236	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1053209	chr12:119479046-119499573	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1050420	chr12:119479046-119499977	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119474400-119479400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:119474800-119479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:119475000-119487800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:119475200-119505800	Weak transcription	Fetal Brain Female	brain
5	chr12:119477600-119493800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:119477800-119482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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