Variant report

Variant	esv3369798
Chromosome Location	chr12:58217452-58217736
allele	n/a
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:6)
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	BHLHE40	chr12:58217024-58217965	K562	blood:	n/a	n/a
2	CCNT2	chr12:58217150-58218263	K562	blood:	n/a	n/a
3	CHD2	chr12:58217622-58217792	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr12:58216843-58217725	K562	blood:	n/a	n/a
5	ELK1	chr12:58217705-58217892	Hela-S3	cervix:	n/a	n/a
6	EP300	chr12:58217534-58217742	K562	blood:	n/a	n/a
7	FOS	chr12:58217703-58217908	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:58217706-58217946	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:58217700-58217945	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:58217703-58217905	MCF10A-Er-Src	breast:	n/a	n/a
11	GTF2F1	chr12:58217712-58217900	Hela-S3	cervix:	n/a	n/a
12	JUN	chr12:58217712-58217964	HepG2	liver:	n/a	n/a
13	JUND	chr12:58217702-58218089	HepG2	liver:	n/a	n/a
14	JUND	chr12:58217531-58217966	K562	blood:	n/a	n/a
15	MAFK	chr12:58216909-58217900	K562	blood:	n/a	chr12:58217515-58217530
16	MAZ	chr12:58217536-58217902	K562	blood:	n/a	chr12:58217554-58217564
17	MAZ	chr12:58217696-58217735	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:58217700-58217702	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:58217269-58217480	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:58217722-58217736	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:58216738-58217740	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:58209632-58221838	K562	blood:	n/a	n/a
23	POLR2A	chr12:58217664-58217684	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:58217402-58217482	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr12:58215502-58218348	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:58216301-58218639	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:58216038-58218765	K562	blood:	n/a	n/a
28	POLR2A	chr12:58217652-58217908	K562	blood:	n/a	n/a
29	POLR2A	chr12:58216778-58217953	K562	blood:	n/a	n/a
30	POLR2A	chr12:58212030-58219642	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:58216834-58217732	U87	brain:	n/a	n/a
32	POLR2A	chr12:58216113-58217767	K562	blood:	n/a	n/a
33	POLR2A	chr12:58217325-58217737	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:58216824-58217582	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:58216508-58218614	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:58217521-58217597	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr12:58217702-58217902	HepG2	liver:	n/a	n/a
38	RCOR1	chr12:58217048-58217960	K562	blood:	n/a	n/a
39	RCOR1	chr12:58217021-58217900	K562	blood:	n/a	n/a
40	RFX5	chr12:58217676-58217904	HepG2	liver:	n/a	n/a
41	TAL1	chr12:58217019-58218091	K562	blood:	n/a	n/a
42	TBL1XR1	chr12:58217594-58217791	K562	blood:	n/a	n/a
43	TEAD4	chr12:58217465-58217848	K562	blood:	n/a	n/a
44	ZMIZ1	chr12:58216888-58217902	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58209701..58211552-chr12:58217500..58219045,2	K562	blood:
2	chr12:58212873..58215210-chr12:58216073..58217617,2	MCF-7	breast:
3	chr12:58216404..58218669-chr12:58237617..58240211,2	MCF-7	breast:
4	chr12:58216233..58218618-chr12:58229885..58232597,3	K562	blood:
5	chr12:58215551..58217986-chr12:58219224..58221045,3	K562	blood:
6	chr12:58209482..58212402-chr12:58215450..58219043,3	MCF-7	breast:

No data

Variant related genes	Relation type
AVIL	TF binding region
ENSG00000175215	chromatin interactions
ENSG00000135407	chromatin interactions
ENSG00000257953	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370807961	chr12:58217453-58217454	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs576186833	chr12:58217543-58217544	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs79835299	chr12:58217564-58217565	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542428135	chr12:58217574-58217575	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs558201597	chr12:58217581-58217582	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs576787321	chr12:58217602-58217603	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs115876295	chr12:58217618-58217619	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs559628565	chr12:58217623-58217624	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs202073979	chr12:58217659-58217660	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371747999	chr12:58217661-58217662	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs375983786	chr12:58217662-58217663	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs369224307	chr12:58217669-58217670	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs367578724	chr12:58217675-58217676	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs563637364	chr12:58217690-58217691	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs184941879	chr12:58217696-58217697	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs78662830	chr12:58217705-58217706	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs77410204	chr12:58217707-58217708	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs12822897	chr12:58217708-58217709	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375138358	chr12:58217729-58217730	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58207800-58222800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:58209400-58226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:58211200-58223800	Strong transcription	Osteobl	bone
4	chr12:58211400-58224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:58211400-58224800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:58211600-58222800	Strong transcription	Fetal Stomach	stomach
7	chr12:58211600-58224000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:58212000-58222600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:58212000-58222800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:58212000-58224400	Strong transcription	Fetal Intestine Large	intestine
11	chr12:58212000-58224800	Strong transcription	Thymus	Thymus
12	chr12:58212200-58222800	Strong transcription	Fetal Intestine Small	intestine
13	chr12:58212200-58223600	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:58212200-58223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:58212200-58224800	Strong transcription	Brain Germinal Matrix	brain
16	chr12:58212400-58222600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:58212400-58222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:58212400-58222800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:58212400-58222800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:58212400-58223600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:58212400-58223600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:58212600-58222800	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:58212600-58223200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:58212600-58224000	Strong transcription	Fetal Lung	lung
25	chr12:58212600-58224200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:58212800-58218200	Genic enhancers	Liver	Liver
27	chr12:58213000-58222000	Strong transcription	Brain Substantia Nigra	brain
28	chr12:58213000-58223200	Strong transcription	NHLF	lung
29	chr12:58213000-58223400	Strong transcription	Fetal Brain Female	brain
30	chr12:58213200-58222800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:58213400-58220800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:58213400-58223000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:58213400-58223000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:58213400-58223000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:58213400-58223200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:58213400-58224000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:58213600-58223000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:58213600-58224000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:58213600-58224400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:58213800-58220800	Strong transcription	Colon Smooth Muscle	Colon
41	chr12:58213800-58222400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:58213800-58224000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:58214000-58220000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:58214000-58222600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:58214000-58222800	Strong transcription	Brain Hippocampus Middle	brain
46	chr12:58214000-58223000	Strong transcription	Brain Angular Gyrus	brain
47	chr12:58214000-58223800	Strong transcription	Primary B cells from cord blood	blood
48	chr12:58214200-58223000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:58214400-58223000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:58214400-58223200	Strong transcription	Primary T cells from cord blood	blood

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