Variant report

Variant	rs545292466
Chromosome Location	chr12:122986647-122986648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122984448-122986669	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr12:122984351-122986657	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:122984476-122989092	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:122984462-122989613	PANC-1	pancreas:	n/a	n/a
5	NFIC	chr12:122985094-122986658	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:122984584-122988911	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:122986460-122989626	HepG2	liver:	n/a	n/a
8	MTA3	chr12:122986626-122988859	GM12878	blood:	n/a	n/a
9	SPI1	chr12:122986512-122987339	GM12878	blood:	n/a	chr12:122986875-122986884
10	ZNF384	chr12:122986566-122987204	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:122986628-122990275	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr12:122984706-122988784	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
3	chr12:122986382..122988482-chr12:122989690..122991321,2	MCF-7	breast:
4	chr12:122882610..122885113-chr12:122985473..122987082,2	K562	blood:
5	chr12:122882713..122885113-chr12:122985565..122987437,3	K562	blood:
6	chr12:122884122..122887585-chr12:122984218..122986985,3	MCF-7	breast:
7	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:

No data

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	esv3379936	chr12:122986475-122986716	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122985400-122988400	Weak transcription	Small Intestine	intestine
2	chr12:122985600-122987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:122985600-122987800	Weak transcription	Gastric	stomach
4	chr12:122985600-122991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122985600-122991000	Weak transcription	Aorta	Aorta
6	chr12:122985600-122991000	Weak transcription	Esophagus	oesophagus
7	chr12:122985600-122991000	Weak transcription	Ovary	ovary
8	chr12:122985800-122987000	Flanking Active TSS	GM12878-XiMat	blood
9	chr12:122985800-122987800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:122985800-122987800	Weak transcription	HSMMtube	muscle
11	chr12:122986000-122986800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:122986000-122986800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:122986000-122987000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:122986000-122987000	Genic enhancers	Fetal Thymus	thymus
15	chr12:122986000-122987200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:122986000-122987200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:122986000-122987400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:122986000-122987400	Weak transcription	Lung	lung
19	chr12:122986000-122987800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:122986000-122987800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:122986000-122987800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:122986000-122987800	Weak transcription	Left Ventricle	heart
23	chr12:122986000-122987800	Weak transcription	Pancreas	Pancrea
24	chr12:122986000-122987800	Weak transcription	Psoas Muscle	Psoas
25	chr12:122986000-122987800	Weak transcription	HSMM	muscle
26	chr12:122986000-122987800	Weak transcription	NHEK	skin
27	chr12:122986000-122989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:122986000-122990000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:122986000-122990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:122986000-122990600	Weak transcription	Stomach Mucosa	stomach
31	chr12:122986000-122991000	Weak transcription	Right Ventricle	heart
32	chr12:122986000-123001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:122986200-122986800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:122986200-122986800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:122986200-122986800	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:122986200-122986800	Weak transcription	Osteobl	bone
37	chr12:122986200-122987000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr12:122986200-122987000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:122986200-122987000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:122986200-122987000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:122986200-122987000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:122986200-122987000	Enhancers	K562	blood
43	chr12:122986200-122987200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:122986200-122987200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:122986200-122987200	Weak transcription	Fetal Intestine Small	intestine
46	chr12:122986200-122987200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr12:122986200-122987400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:122986200-122987400	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:122986200-122987400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:122986200-122987600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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