Variant report

Variant	rs539235513
Chromosome Location	chr12:122986179-122986180
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

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	chr12:122984627-122986286	GM19099	blood:	n/a	n/a
3	POLR2A	chr12:122985050-122986645	PANC-1	pancreas:	n/a	n/a
4	RELA	chr12:122985199-122986211	GM10847	blood:	n/a	n/a
5	POLR2A	chr12:122986023-122986280	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr12:122985373-122986502	GM12878	blood:	n/a	chr12:122986146-122986160 chr12:122986174-122986188 chr12:122986161-122986171
7	POLR2A	chr12:122985076-122986339	GM12878	blood:	n/a	n/a
8	ATF2	chr12:122985173-122986259	GM12878	blood:	n/a	n/a
9	RELA	chr12:122985137-122986214	GM15510	blood:	n/a	n/a
10	TCF12	chr12:122984340-122986308	A549	lung:	n/a	n/a
11	POLR2A	chr12:122984650-122986223	Raji	blood:	n/a	n/a
12	POLR2A	chr12:122984581-122986609	HUVEC	blood vessel:	n/a	n/a
13	NR2F2	chr12:122984401-122986335	K562	blood:	n/a	n/a
14	ETS1	chr12:122984787-122986247	A549	lung:	n/a	chr12:122985559-122985572 chr12:122985623-122985636 chr12:122985564-122985571 chr12:122985560-122985573
15	POLR2A	chr12:122986059-122986369	K562	blood:	n/a	n/a
16	MAX	chr12:122984334-122986233	A549	lung:	n/a	n/a
17	POLR2A	chr12:122985093-122986581	U87	brain:	n/a	n/a
18	POLR2A	chr12:122984448-122986669	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr12:122984351-122986657	GM12878	blood:	n/a	n/a
20	MTA3	chr12:122985160-122986428	GM12878	blood:	n/a	n/a
21	SPI1	chr12:122985928-122986338	HL-60	blood:	n/a	n/a
22	POLR2A	chr12:122984476-122989092	SK-N-MC	brain:	n/a	n/a
23	HCFC1	chr12:122983947-122986313	Hela-S3	cervix:	n/a	n/a
24	STAT5A	chr12:122984514-122986542	GM12878	blood:	n/a	n/a
25	FOXM1	chr12:122985197-122986420	GM12878	blood:	n/a	n/a
26	PML	chr12:122984411-122986584	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:122985961-122986502	U87	brain:	n/a	n/a
28	MAZ	chr12:122984360-122986459	IMR90	lung:	n/a	n/a
29	POLR2A	chr12:122985090-122986587	U87	brain:	n/a	n/a
30	REST	chr12:122984363-122986247	H1-neurons	neurons:	n/a	chr12:122984608-122984628 chr12:122984608-122984628
31	POLR2A	chr12:122984462-122989613	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr12:122984789-122986286	HepG2	liver:	n/a	n/a
33	NFIC	chr12:122985094-122986658	GM12878	blood:	n/a	n/a
34	MAX	chr12:122984563-122986264	NB4	blood:	n/a	n/a
35	SPI1	chr12:122985841-122986407	HL-60	blood:	n/a	n/a
36	ELK1	chr12:122985258-122986289	GM12878	blood:	n/a	n/a
37	BATF	chr12:122985918-122986436	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:122984584-122988911	GM12891	blood:	n/a	n/a
39	POLR2A	chr12:122985255-122986530	A549	lung:	n/a	n/a
40	POLR2A	chr12:122986107-122986434	MCF10A-Er-Src	breast:	n/a	n/a
41	CHD1	chr12:122984596-122986589	GM12878	blood:	n/a	n/a
42	MXI1	chr12:122984027-122986608	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr12:122985083-122986523	SK-N-SH	brain:	n/a	n/a
44	FOXM1	chr12:122985123-122986413	GM12878	blood:	n/a	n/a
45	MYC	chr12:122984553-122986254	NB4	blood:	n/a	n/a
46	RUNX3	chr12:122984525-122986586	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:122984583-122986349	HL-60	blood:	n/a	n/a
48	MAX	chr12:122984747-122986402	GM12878	blood:	n/a	n/a
49	SPI1	chr12:122985971-122986303	GM12891	blood:	n/a	n/a
50	POLR2A	chr12:122984609-122986506	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
3	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
4	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
5	chr12:122974949..122980917-chr12:122982980..122986294,6	MCF-7	breast:
6	chr12:122882610..122885113-chr12:122985473..122987082,2	K562	blood:
7	chr12:122882713..122885113-chr12:122985565..122987437,3	K562	blood:
8	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
9	chr12:122884122..122887585-chr12:122984218..122986985,3	MCF-7	breast:
10	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:

No data

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000139726	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000252192	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	chr12:122983600-122986200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:122983800-122986200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:122983800-122986200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:122983800-122986200	Active TSS	Fetal Lung	lung
5	chr12:122983800-122986200	Active TSS	Rectal Smooth Muscle	rectum
6	chr12:122983800-122986200	Active TSS	Osteobl	bone
7	chr12:122984000-122986200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:122984200-122986200	Active TSS	Colon Smooth Muscle	Colon
9	chr12:122984200-122986200	Active TSS	Fetal Kidney	kidney
10	chr12:122984200-122986400	Active TSS	Thymus	Thymus
11	chr12:122984200-122986600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:122984800-122986200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:122984800-122986200	Active TSS	Spleen	Spleen
14	chr12:122985400-122988400	Weak transcription	Small Intestine	intestine
15	chr12:122985600-122986200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr12:122985600-122986200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr12:122985600-122986200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:122985600-122986200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr12:122985600-122986200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:122985600-122986200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr12:122985600-122986200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:122985600-122986200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr12:122985600-122986200	Flanking Active TSS	HUVEC	blood vessel
24	chr12:122985600-122986400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr12:122985600-122986400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:122985600-122986400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:122985600-122986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:122985600-122986600	Flanking Active TSS	Dnd41	blood
29	chr12:122985600-122987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:122985600-122987800	Weak transcription	Gastric	stomach
31	chr12:122985600-122991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:122985600-122991000	Weak transcription	Aorta	Aorta
33	chr12:122985600-122991000	Weak transcription	Esophagus	oesophagus
34	chr12:122985600-122991000	Weak transcription	Ovary	ovary
35	chr12:122985800-122986200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr12:122985800-122986200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:122985800-122986200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:122985800-122986200	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr12:122985800-122986200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr12:122985800-122986200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:122985800-122986200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:122985800-122986200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:122985800-122986200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:122985800-122986200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr12:122985800-122986200	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr12:122985800-122986200	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr12:122985800-122986200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:122985800-122986200	Flanking Active TSS	Fetal Brain Female	brain
49	chr12:122985800-122986200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr12:122985800-122986200	Active TSS	Right Atrium	heart

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