Variant report

Variant	rs79237776
Chromosome Location	chr12:122321904-122321905
allele	-/CAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:122321890-122321927	K562	blood:	n/a	n/a
2	CEBPB	chr12:122321820-122321980	IMR90	lung:	n/a	n/a

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
PSMD9	TF binding region
ENSG00000256950	TF binding region
ENSG00000110801	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000256950	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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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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