Variant report

Variant	rs563812313
Chromosome Location	chr12:122321991-122321992
allele	-/AGTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122319850..122323065-chr12:122324628..122326672,4	MCF-7	breast:
2	chr12:122313122..122314664-chr12:122320554..122322412,2	K562	blood:
3	chr12:122239544..122241081-chr12:122321387..122323397,2	MCF-7	breast:
4	chr12:122319572..122322353-chr12:122324355..122326595,2	MCF-7	breast:
5	chr12:122233107..122235013-chr12:122321542..122323051,2	MCF-7	breast:
6	chr12:122321753..122324282-chr12:122324684..122326491,2	K562	blood:
7	chr12:122320221..122322912-chr12:122324691..122327698,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3417525	chr12:122321837-122324560	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122312000-122322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:122320400-122322000	Enhancers	K562	blood
3	chr12:122321000-122322000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:122321200-122322000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:122321400-122322000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:122321400-122323000	Enhancers	HepG2	liver
7	chr12:122321400-122325800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:122321400-122326000	Weak transcription	Right Atrium	heart
9	chr12:122321400-122326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:122321400-122326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:122321800-122323200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:122321800-122325600	Weak transcription	Liver	Liver
13	chr12:122321800-122325600	Weak transcription	Hela-S3	cervix
14	chr12:122321800-122325800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:122321800-122326000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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