Variant report

Variant	rs114268672
Chromosome Location	chr12:56500872-56500873
allele	A/G
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:9)
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	TBL1XR1	chr12:56500810-56501363	K562	blood:	n/a	n/a
2	POLR2A	chr12:56500863-56501343	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:56500669-56501202	K562	blood:	n/a	n/a

No data

(count:9 , 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	chr12:56471291..56475668-chr12:56497220..56500908,8	K562	blood:
4	chr12:56500254..56503028-chr12:56550656..56552219,2	MCF-7	breast:
5	chr12:56135568..56140230-chr12:56496911..56501047,5	K562	blood:
6	chr12:56434544..56443137-chr12:56494029..56505252,21	K562	blood:
7	chr12:56435808..56437500-chr12:56500706..56503595,2	MCF-7	breast:
8	chr12:56434034..56442629-chr12:56495467..56501430,16	MCF-7	breast:
9	chr12:56499013..56501029-chr12:56614482..56616399,2	K562	blood:

No data

Variant related genes	Relation type
PA2G4	TF binding region
ENSG00000092841	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000181852	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	chr12:56498400-56501400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:56498600-56501000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56499200-56501400	Transcr. at gene 5' and 3'	K562	blood
4	chr12:56499200-56509600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:56499400-56501000	Weak transcription	Aorta	Aorta
6	chr12:56499400-56501000	Weak transcription	Gastric	stomach
7	chr12:56499400-56501000	Weak transcription	Pancreas	Pancrea
8	chr12:56499600-56501200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:56499600-56505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:56499800-56501000	Weak transcription	Fetal Brain Male	brain
11	chr12:56499800-56501200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:56499800-56501200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:56500000-56501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:56500000-56501000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:56500000-56501200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:56500000-56501400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
17	chr12:56500000-56508200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:56500200-56501000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:56500200-56501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:56500200-56501000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:56500200-56501000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:56500200-56501000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:56500200-56501000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:56500200-56501000	Weak transcription	Right Ventricle	heart
25	chr12:56500200-56501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:56500200-56501200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:56500200-56501400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:56500200-56502400	Strong transcription	Primary B cells from cord blood	blood
29	chr12:56500200-56503000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:56500200-56503400	Weak transcription	Small Intestine	intestine
31	chr12:56500200-56504200	Weak transcription	Stomach Mucosa	stomach
32	chr12:56500200-56507600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:56500200-56507600	Strong transcription	Psoas Muscle	Psoas
34	chr12:56500200-56507800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:56500200-56508000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr12:56500200-56508000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:56500200-56508200	Strong transcription	NH-A	brain
38	chr12:56500200-56508600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:56500400-56501000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:56500400-56501200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr12:56500400-56501200	Genic enhancers	A549	lung
42	chr12:56500400-56501200	Genic enhancers	HepG2	liver
43	chr12:56500400-56501200	Genic enhancers	HMEC	breast
44	chr12:56500400-56506400	Strong transcription	Colon Smooth Muscle	Colon
45	chr12:56500400-56506400	Strong transcription	NHLF	lung
46	chr12:56500400-56507200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:56500400-56507800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:56500400-56507800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr12:56500400-56507800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:56500400-56507800	Strong transcription	Rectal Smooth Muscle	rectum

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