Variant report

Variant	rs77224376
Chromosome Location	chr12:56500319-56500320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:56497451-56500334	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:56499993-56500546	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:56500315-56500518	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56435618..56442072-chr12:56498381..56502676,10	K562	blood:
2	chr12:56471261..56483436-chr12:56494778..56506435,58	MCF-7	breast:
3	chr12:56497759..56500713-chr12:56568434..56571351,2	MCF-7	breast:
4	chr12:56471291..56475668-chr12:56497220..56500908,8	K562	blood:
5	chr12:56431889..56443161-chr12:56494616..56500426,22	MCF-7	breast:
6	chr12:56500254..56503028-chr12:56550656..56552219,2	MCF-7	breast:
7	chr12:56135568..56140230-chr12:56496911..56501047,5	K562	blood:
8	chr12:56434544..56443137-chr12:56494029..56505252,21	K562	blood:
9	chr12:56434034..56442629-chr12:56495467..56501430,16	MCF-7	breast:
10	chr12:56497691..56500664-chr12:56545558..56547668,3	MCF-7	breast:
11	chr12:56499013..56501029-chr12:56614482..56616399,2	K562	blood:
12	chr12:56497940..56500843-chr12:56693833..56696028,2	K562	blood:

No data

Variant related genes	Relation type
PA2G4	TF binding region
ENSG00000065361	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000062485	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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS 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 target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv1801567	chr12:56496840-56504549	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv973075	chr12:56500110-56507731	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56497600-56500400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:56498400-56501400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr12:56498600-56501000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56499200-56500400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr12:56499200-56500400	Enhancers	Spleen	Spleen
6	chr12:56499200-56500400	Transcr. at gene 5' and 3'	A549	lung
7	chr12:56499200-56500400	Flanking Active TSS	HSMM	muscle
8	chr12:56499200-56501400	Transcr. at gene 5' and 3'	K562	blood
9	chr12:56499200-56509600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:56499400-56500400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:56499400-56500400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
12	chr12:56499400-56500400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:56499400-56500600	Transcr. at gene 5' and 3'	Hela-S3	cervix
14	chr12:56499400-56500800	Transcr. at gene 5' and 3'	NHEK	skin
15	chr12:56499400-56501000	Weak transcription	Aorta	Aorta
16	chr12:56499400-56501000	Weak transcription	Gastric	stomach
17	chr12:56499400-56501000	Weak transcription	Pancreas	Pancrea
18	chr12:56499600-56500400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
19	chr12:56499600-56500400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:56499600-56500400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:56499600-56500400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:56499600-56500400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:56499600-56500400	Enhancers	Placenta	Placenta
24	chr12:56499600-56500600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
25	chr12:56499600-56500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:56499600-56500600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:56499600-56500600	Weak transcription	Left Ventricle	heart
28	chr12:56499600-56500800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:56499600-56501200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:56499600-56505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:56499800-56500400	Genic enhancers	Primary T cells from cord blood	blood
32	chr12:56499800-56500400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:56499800-56500400	Enhancers	Adipose Nuclei	Adipose
34	chr12:56499800-56500400	Genic enhancers	Brain Hippocampus Middle	brain
35	chr12:56499800-56500400	Enhancers	Fetal Kidney	kidney
36	chr12:56499800-56500400	Genic enhancers	Rectal Smooth Muscle	rectum
37	chr12:56499800-56500400	Flanking Active TSS	HMEC	breast
38	chr12:56499800-56500600	Genic enhancers	Primary hematopoietic stem cells	blood
39	chr12:56499800-56500600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:56499800-56500800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:56499800-56501000	Weak transcription	Fetal Brain Male	brain
42	chr12:56499800-56501200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:56499800-56501200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:56500000-56500400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:56500000-56500400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
46	chr12:56500000-56500400	Genic enhancers	Liver	Liver
47	chr12:56500000-56500400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr12:56500000-56500400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
49	chr12:56500000-56500400	Enhancers	Fetal Heart	heart
50	chr12:56500000-56500400	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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