Variant report

Variant	rs557050944
Chromosome Location	chr12:56501138-56501139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56500875-56501232	GM12878	blood:	n/a	n/a
2	TAL1	chr12:56501055-56501467	K562	blood:	n/a	n/a
3	GATA1	chr12:56500899-56501632	K562	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
4	TBL1XR1	chr12:56500810-56501363	K562	blood:	n/a	n/a
5	TEAD4	chr12:56500997-56501375	K562	blood:	n/a	n/a
6	TEAD4	chr12:56500923-56501525	K562	blood:	n/a	n/a
7	EP300	chr12:56501048-56501452	K562	blood:	n/a	n/a
8	PML	chr12:56500998-56501454	K562	blood:	n/a	n/a
9	POLR2A	chr12:56500863-56501343	GM12878	blood:	n/a	n/a
10	GATA2	chr12:56501009-56501426	K562	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
11	RCOR1	chr12:56501105-56501422	K562	blood:	n/a	n/a
12	ZMIZ1	chr12:56501055-56501332	K562	blood:	n/a	n/a
13	POLR2A	chr12:56501103-56501371	K562	blood:	n/a	n/a
14	GATA1	chr12:56500914-56501612	PBDE	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
15	CEBPD	chr12:56501044-56501455	K562	blood:	n/a	n/a
16	POLR2A	chr12:56500669-56501202	K562	blood:	n/a	n/a
17	IRF1	chr12:56501048-56501300	K562	blood:	n/a	chr12:56501202-56501211
18	GATA1	chr12:56501068-56501383	PBDEFetal	blood:	n/a	chr12:56501293-56501300 chr12:56501290-56501300
19	CCNT2	chr12:56501045-56501457	K562	blood:	n/a	chr12:56501110-56501119

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	chr12:56500254..56503028-chr12:56550656..56552219,2	MCF-7	breast:
4	chr12:56434544..56443137-chr12:56494029..56505252,21	K562	blood:
5	chr12:56435808..56437500-chr12:56500706..56503595,2	MCF-7	breast:
6	chr12:56434034..56442629-chr12:56495467..56501430,16	MCF-7	breast:
7	chr12:56135636..56138112-chr12:56501103..56503509,2	K562	blood:

Variant related genes	Relation type
PA2G4	TF binding region
ENSG00000257809	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000092841	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	chr12:56499200-56501400	Transcr. at gene 5' and 3'	K562	blood
3	chr12:56499200-56509600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:56499600-56501200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:56499600-56505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:56499800-56501200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:56499800-56501200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:56500000-56501200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:56500000-56501400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr12:56500000-56508200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:56500200-56501200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:56500200-56501400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:56500200-56502400	Strong transcription	Primary B cells from cord blood	blood
14	chr12:56500200-56503000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:56500200-56503400	Weak transcription	Small Intestine	intestine
16	chr12:56500200-56504200	Weak transcription	Stomach Mucosa	stomach
17	chr12:56500200-56507600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:56500200-56507600	Strong transcription	Psoas Muscle	Psoas
19	chr12:56500200-56507800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:56500200-56508000	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr12:56500200-56508000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:56500200-56508200	Strong transcription	NH-A	brain
23	chr12:56500200-56508600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:56500400-56501200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:56500400-56501200	Genic enhancers	A549	lung
26	chr12:56500400-56501200	Genic enhancers	HepG2	liver
27	chr12:56500400-56501200	Genic enhancers	HMEC	breast
28	chr12:56500400-56506400	Strong transcription	Colon Smooth Muscle	Colon
29	chr12:56500400-56506400	Strong transcription	NHLF	lung
30	chr12:56500400-56507200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:56500400-56507800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:56500400-56507800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr12:56500400-56507800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr12:56500400-56507800	Strong transcription	Rectal Smooth Muscle	rectum
35	chr12:56500400-56507800	Strong transcription	Thymus	Thymus
36	chr12:56500400-56507800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:56500400-56508000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:56500400-56508000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:56500400-56508000	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:56500400-56508000	Strong transcription	Osteobl	bone
41	chr12:56500400-56508200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:56500400-56508200	Strong transcription	Liver	Liver
43	chr12:56500400-56508400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:56500400-56508400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:56500400-56508400	Strong transcription	Primary T cells from cord blood	blood
46	chr12:56500400-56508400	Strong transcription	Brain Hippocampus Middle	brain
47	chr12:56500400-56508400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:56500400-56508400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:56500400-56509200	Weak transcription	Fetal Heart	heart
50	chr12:56500600-56501400	Genic enhancers	Hela-S3	cervix

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