Variant report

Variant	rs77725673
Chromosome Location	chr12:122986030-122986031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:122984499-122986098	A549	lung:	n/a	chr12:122984608-122984628 chr12:122984608-122984628
2	CTCF	chr12:122985392-122986078	K562	blood:	n/a	chr12:122985427-122985436
3	POLR2A	chr12:122984627-122986286	GM19099	blood:	n/a	n/a
4	POLR2A	chr12:122984655-122986115	GM18505	blood:	n/a	n/a
5	POLR2A	chr12:122985050-122986645	PANC-1	pancreas:	n/a	n/a
6	RELA	chr12:122985199-122986211	GM10847	blood:	n/a	n/a
7	POLR2A	chr12:122986023-122986280	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr12:122985880-122986030	GM12875	blood:	n/a	n/a
9	CTCF	chr12:122986000-122986150	K562	blood:	n/a	n/a
10	POLR2A	chr12:122984599-122986132	GM12891	blood:	n/a	n/a
11	SIN3A	chr12:122985156-122986044	GM12878	blood:	n/a	n/a
12	CTCF	chr12:122985880-122986030	GM12865	blood:	n/a	n/a
13	CTCF	chr12:122985815-122986041	MCF-7	breast:	n/a	n/a
14	EP300	chr12:122985373-122986502	GM12878	blood:	n/a	chr12:122986146-122986160 chr12:122986174-122986188 chr12:122986161-122986171
15	CTCF	chr12:122985920-122986070	GM12873	blood:	n/a	n/a
16	MAX	chr12:122985047-122986141	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:122985076-122986339	GM12878	blood:	n/a	n/a
18	ATF2	chr12:122985173-122986259	GM12878	blood:	n/a	n/a
19	RELA	chr12:122985137-122986214	GM15510	blood:	n/a	n/a
20	TCF12	chr12:122984340-122986308	A549	lung:	n/a	n/a
21	BCLAF1	chr12:122985149-122986166	GM12878	blood:	n/a	chr12:122985573-122985586
22	CTCF	chr12:122985869-122986038	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:122986000-122986150	HRE	kidney:	n/a	n/a
24	POLR2A	chr12:122984650-122986223	Raji	blood:	n/a	n/a
25	POLR2A	chr12:122984626-122986106	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF3	chr12:122985327-122986053	GM12878	blood:	n/a	chr12:122985538-122985547
27	CTCF	chr12:122985889-122986036	K562	blood:	n/a	n/a
28	POLR2A	chr12:122984581-122986609	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr12:122985824-122986047	MCF-7	breast:	n/a	n/a
30	POLR2A	chr12:122984670-122986072	GM19193	blood:	n/a	n/a
31	NR2F2	chr12:122984401-122986335	K562	blood:	n/a	n/a
32	ETS1	chr12:122984787-122986247	A549	lung:	n/a	chr12:122985559-122985572 chr12:122985623-122985636 chr12:122985564-122985571 chr12:122985560-122985573
33	MAX	chr12:122984334-122986233	A549	lung:	n/a	n/a
34	CTCF	chr12:122985920-122986070	HFF	foreskin:	n/a	n/a
35	POLR2A	chr12:122985093-122986581	U87	brain:	n/a	n/a
36	POLR2A	chr12:122984566-122986070	K562	blood:	n/a	n/a
37	POLR2A	chr12:122984448-122986669	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr12:122984351-122986657	GM12878	blood:	n/a	n/a
39	PAX5	chr12:122985353-122986091	GM12878	blood:	n/a	n/a
40	MAX	chr12:122985304-122986095	H1-hESC	embryonic stem cell:	n/a	n/a
41	TBL1XR1	chr12:122985263-122986115	K562	blood:	n/a	n/a
42	CTCF	chr12:122985865-122986071	MCF-7	breast:	n/a	n/a
43	MAX	chr12:122984554-122986051	HepG2	liver:	n/a	n/a
44	ZBTB7A	chr12:122985741-122986032	K562	blood:	n/a	n/a
45	USF1	chr12:122985467-122986045	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:122984707-122986161	ProgFib	skin:	n/a	n/a
47	MXI1	chr12:122984534-122986039	GM12878	blood:	n/a	n/a
48	MTA3	chr12:122985160-122986428	GM12878	blood:	n/a	n/a
49	CTCF	chr12:122985920-122986070	A549	lung:	n/a	n/a
50	TEAD4	chr12:122984833-122986107	A549	lung:	n/a	n/a

No data

(count:11 , 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:
11	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:

No data

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000252192	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000184047	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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