Variant report

Variant	rs76147054
Chromosome Location	chr12:119818532-119818533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3423351	chr12:119818410-119818678	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119811400-119819600	Weak transcription	Lung	lung
2	chr12:119815800-119819400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:119817200-119818800	Weak transcription	Right Atrium	heart
4	chr12:119817400-119818800	Weak transcription	Left Ventricle	heart
5	chr12:119817400-119819800	Weak transcription	Fetal Lung	lung
6	chr12:119817400-119820200	Weak transcription	Right Ventricle	heart
7	chr12:119817400-119822400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:119817600-119823600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:119818200-119819000	Weak transcription	Fetal Heart	heart

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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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