Variant report

Variant	rs555347953
Chromosome Location	chr12:122986374-122986375
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IKZF1	chr12:122986035-122986377	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:122985050-122986645	PANC-1	pancreas:	n/a	n/a
3	EP300	chr12:122985373-122986502	GM12878	blood:	n/a	chr12:122986146-122986160 chr12:122986174-122986188 chr12:122986161-122986171
4	POLR2A	chr12:122984581-122986609	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:122985093-122986581	U87	brain:	n/a	n/a
6	POLR2A	chr12:122984448-122986669	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr12:122984351-122986657	GM12878	blood:	n/a	n/a
8	MTA3	chr12:122985160-122986428	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:122984476-122989092	SK-N-MC	brain:	n/a	n/a
10	STAT5A	chr12:122984514-122986542	GM12878	blood:	n/a	n/a
11	FOXM1	chr12:122985197-122986420	GM12878	blood:	n/a	n/a
12	PML	chr12:122984411-122986584	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:122985961-122986502	U87	brain:	n/a	n/a
14	MAZ	chr12:122984360-122986459	IMR90	lung:	n/a	n/a
15	POLR2A	chr12:122985090-122986587	U87	brain:	n/a	n/a
16	POLR2A	chr12:122984462-122989613	PANC-1	pancreas:	n/a	n/a
17	NFIC	chr12:122985094-122986658	GM12878	blood:	n/a	n/a
18	SPI1	chr12:122985841-122986407	HL-60	blood:	n/a	n/a
19	BATF	chr12:122985918-122986436	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:122984584-122988911	GM12891	blood:	n/a	n/a
21	POLR2A	chr12:122985255-122986530	A549	lung:	n/a	n/a
22	POLR2A	chr12:122986107-122986434	MCF10A-Er-Src	breast:	n/a	n/a
23	CHD1	chr12:122984596-122986589	GM12878	blood:	n/a	n/a
24	MXI1	chr12:122984027-122986608	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:122985083-122986523	SK-N-SH	brain:	n/a	n/a
26	FOXM1	chr12:122985123-122986413	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:122986272-122986424	Hela-S3	cervix:	n/a	n/a
28	RUNX3	chr12:122984525-122986586	GM12878	blood:	n/a	n/a
29	MAX	chr12:122984747-122986402	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:122984609-122986506	GM12878	blood:	n/a	n/a
31	MEF2A	chr12:122985187-122986391	GM12878	blood:	n/a	chr12:122986155-122986170
32	POLR2A	chr12:122984626-122986422	GM12878	blood:	n/a	n/a
33	BCL3	chr12:122985078-122986601	A549	lung:	n/a	chr12:122985573-122985586
34	ATF3	chr12:122985174-122986463	A549	lung:	n/a	chr12:122985538-122985547
35	RUNX3	chr12:122984470-122986575	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:122984706-122988784	MCF-7	breast:	n/a	n/a
37	CEBPB	chr12:122985377-122986594	GM12878	blood:	n/a	n/a
38	JUN	chr12:122984534-122986595	K562	blood:	n/a	n/a
39	ATF2	chr12:122985323-122986576	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:122985207-122986506	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:122986362-122986454	Hela-S3	cervix:	n/a	n/a
42	NFATC1	chr12:122985286-122986487	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:122986204-122986585	PFSK-1	brain:	n/a	n/a
44	MTA3	chr12:122984402-122986585	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
3	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
4	chr12:122882610..122885113-chr12:122985473..122987082,2	K562	blood:
5	chr12:122882713..122885113-chr12:122985565..122987437,3	K562	blood:
6	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
7	chr12:122884122..122887585-chr12:122984218..122986985,3	MCF-7	breast:
8	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:

No data

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000130779	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000033030	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122984200-122986400	Active TSS	Thymus	Thymus
2	chr12:122984200-122986600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr12:122985400-122988400	Weak transcription	Small Intestine	intestine
4	chr12:122985600-122986400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr12:122985600-122986400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr12:122985600-122986400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:122985600-122986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122985600-122986600	Flanking Active TSS	Dnd41	blood
9	chr12:122985600-122987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:122985600-122987800	Weak transcription	Gastric	stomach
11	chr12:122985600-122991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122985600-122991000	Weak transcription	Aorta	Aorta
13	chr12:122985600-122991000	Weak transcription	Esophagus	oesophagus
14	chr12:122985600-122991000	Weak transcription	Ovary	ovary
15	chr12:122985800-122986400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr12:122985800-122986400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:122985800-122986400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr12:122985800-122986400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:122985800-122986400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:122985800-122987000	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:122985800-122987800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:122985800-122987800	Weak transcription	HSMMtube	muscle
23	chr12:122986000-122986400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:122986000-122986400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:122986000-122986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:122986000-122986600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122986000-122986800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:122986000-122986800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:122986000-122987000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:122986000-122987000	Genic enhancers	Fetal Thymus	thymus
31	chr12:122986000-122987200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:122986000-122987200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:122986000-122987400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:122986000-122987400	Weak transcription	Lung	lung
35	chr12:122986000-122987800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:122986000-122987800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:122986000-122987800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:122986000-122987800	Weak transcription	Left Ventricle	heart
39	chr12:122986000-122987800	Weak transcription	Pancreas	Pancrea
40	chr12:122986000-122987800	Weak transcription	Psoas Muscle	Psoas
41	chr12:122986000-122987800	Weak transcription	HSMM	muscle
42	chr12:122986000-122987800	Weak transcription	NHEK	skin
43	chr12:122986000-122989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:122986000-122990000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:122986000-122990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:122986000-122990600	Weak transcription	Stomach Mucosa	stomach
47	chr12:122986000-122991000	Weak transcription	Right Ventricle	heart
48	chr12:122986000-123001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:122986200-122986400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:122986200-122986400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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