Variant report

Variant	rs75221748
Chromosome Location	chr12:121077556-121077557
allele	C/G
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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3346909	chr12:121077394-121079942	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:121075800-121077600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:121076400-121077600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:121076600-121078000	Weak transcription	Pancreas	Pancrea
4	chr12:121077400-121077600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr12:121077400-121077600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:121077400-121077600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:121077400-121077600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:121077400-121077600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:121077400-121077600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr12:121077400-121077600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:121077400-121077600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:121077400-121077800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:121077400-121078200	Flanking Active TSS	iPS DF 19.11 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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