Variant report

Variant	esv3359214
Chromosome Location	chr4:614252-618550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:616620-616750	Fibrobl	skin:	n/a	n/a
2	EGR1	chr4:616278-616796	GM12878	blood:	n/a	n/a
3	MAX	chr4:618140-618245	NB4	blood:	n/a	n/a
4	MYC	chr4:618289-618301	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:618221-618244	Gliobla	brain:	n/a	n/a
6	POLR2A	chr4:616389-616718	Gliobla	brain:	n/a	n/a
7	POLR2A	chr4:618266-618309	MCF-7	breast:	n/a	n/a
8	POLR2A	chr4:616435-616471	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:618266-618268	Gliobla	brain:	n/a	n/a
10	SUZ12	chr4:616422-616865	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAL1	chr4:616807-616829	K562	blood:	n/a	n/a
12	TCF12	chr4:616703-616894	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr4:616156-616492	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr4:616430-616741	GM12878	blood:	n/a	n/a
15	TCF3	chr4:616277-616918	GM12878	blood:	n/a	n/a
16	ZEB1	chr4:616163-616973	GM12878	blood:	n/a	chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723
17	ZEB1	chr4:616102-617173	HepG2	liver:	n/a	chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723
18	ZEB1	chr4:616148-617280	GM12878	blood:	n/a	chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723
19	ZNF143	chr4:616568-616569	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:614552-614602	GM19239	blood:	n/a
2	chr4:618497-618547	BJ	skin:	n/a
3	chr4:618549-618599	AG09319	gingival:	n/a
4	chr4:618204-618254	ovcar-3	ovarian:	n/a
5	chr4:618332-618382	AG10803	skin:	n/a
6	chr4:614552-614602	BE2_C	brain:	n/a
7	chr4:618549-618599	SK-N-MC	brain:	n/a
8	chr4:618497-618547	HRPEpiC	eye:	n/a
9	chr4:616584-616634	HepG2	liver:	n/a
10	chr4:618497-618547	HEK293	kidney:	embryo
11	chr4:618332-618382	SKMC	muscle:	n/a
12	chr4:618332-618382	BE2_C	brain:	n/a
13	chr4:618549-618599	AoSMC	blood vessel:	n/a
14	chr4:618204-618254	Hepatocyte	liver:	n/a
15	chr4:614552-614602	K562	blood:	n/a
16	chr4:618204-618254	MCF-7	breast:	n/a
17	chr4:618549-618599	Jurkat	blood:	n/a
18	chr4:618332-618382	HepG2	liver:	n/a
19	chr4:614552-614602	HEK293	kidney:	embryo
20	chr4:616584-616634	Hepatocyte	liver:	n/a
21	chr4:618204-618254	SK-N-SH_RA	brain:	n/a
22	chr4:618549-618599	GM19239	blood:	n/a
23	chr4:616584-616634	HEEpiC	esophagus:	n/a
24	chr4:618332-618382	NH-A	brain:	n/a
25	chr4:618549-618599	AG09309	skin:	n/a
26	chr4:616584-616634	NHDF-neo	bronchial:	n/a
27	chr4:618114-618164	A549	lung:	n/a
28	chr4:614552-614602	HCT-116	colon:	n/a
29	chr4:618204-618254	HCM	heart:	n/a
30	chr4:618332-618382	AG04450	lung:	fetal
31	chr4:618497-618547	MCF10A-Er-Src	breast:	n/a
32	chr4:618114-618164	HCM	heart:	n/a
33	chr4:618204-618254	BJ	skin:	n/a
34	chr4:618114-618164	NB4	blood:	n/a
35	chr4:618549-618599	HL-60	blood:	n/a
36	chr4:618204-618254	IMR90	lung:	fetal
37	chr4:618204-618254	PFSK-1	brain:	n/a
38	chr4:618549-618599	U87	brain:	n/a
39	chr4:616584-616634	HNPCEpiC	eye:	n/a
40	chr4:614552-614602	MCF-7	breast:	n/a
41	chr4:616584-616634	BE2_C	brain:	n/a
42	chr4:618549-618599	HRPEpiC	eye:	n/a
43	chr4:618549-618599	PFSK-1	brain:	n/a
44	chr4:614552-614602	LNCaP	prostate:	n/a
45	chr4:618549-618599	GM12878	blood:	n/a
46	chr4:618332-618382	NHDF-neo	bronchial:	n/a
47	chr4:616584-616634	HL-60	blood:	n/a
48	chr4:614552-614602	SKMC	muscle:	n/a
49	chr4:618497-618547	ProgFib	skin:	n/a
50	chr4:614752-614802	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:615876..617771-chr4:628086..630978,3	K562	blood:
2	chr4:615679..617414-chr4:667788..669338,2	MCF-7	breast:
3	chr4:613849..616261-chr4:650426..653017,2	K562	blood:

Variant related genes	Relation type
PDE6B	TF binding region
PDE6B	CpG island
ENSG00000169020	chromatin interactions
ENSG00000215375	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113048299	chr4:614268-614269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564571307	chr4:614275-614276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568921802	chr4:614299-614300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532015815	chr4:614301-614302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550235062	chr4:614316-614317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562425828	chr4:614341-614342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78065261	chr4:614358-614359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547395258	chr4:614379-614380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565787064	chr4:614423-614424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539140746	chr4:614429-614430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539589235	chr4:614463-614464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551149673	chr4:614493-614494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569787087	chr4:614501-614502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79943548	chr4:614525-614526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529103889	chr4:614552-614553	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs376722066	chr4:614567-614568	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs551489224	chr4:614598-614599	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs76463482	chr4:614616-614617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10028157	chr4:614635-614636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534559171	chr4:614648-614649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553009582	chr4:614663-614664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185399630	chr4:614664-614665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11248029	chr4:614672-614673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs150277765	chr4:614677-614678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576532933	chr4:614706-614707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138934682	chr4:614744-614745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562202397	chr4:614763-614764	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs149408151	chr4:614770-614771	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs541022251	chr4:614774-614775	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs10023934	chr4:614801-614802	Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372724025	chr4:614817-614818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568346060	chr4:614818-614819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530765571	chr4:614837-614838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551613722	chr4:614872-614873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550749498	chr4:614877-614878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534425981	chr4:614907-614908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530588099	chr4:614922-614923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566500376	chr4:614931-614932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549170375	chr4:614945-614946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189046757	chr4:614962-614963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534964866	chr4:614973-614974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552995591	chr4:614985-614986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571290766	chr4:614986-614987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11946101	chr4:615023-615024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556747159	chr4:615056-615057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190871233	chr4:615085-615086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543602941	chr4:615087-615088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555970596	chr4:615092-615093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573983287	chr4:615111-615112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182404405	chr4:615119-615120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:612400-616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:615600-617600	Enhancers	Brain Hippocampus Middle	brain
3	chr4:615800-618200	Enhancers	Brain Substantia Nigra	brain
4	chr4:616000-617400	Enhancers	Brain Cingulate Gyrus	brain
5	chr4:616200-617000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:616200-617400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr4:616200-618200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:616200-618400	Enhancers	Brain Angular Gyrus	brain
9	chr4:616600-617000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:616600-617000	Enhancers	Brain Anterior Caudate	brain
11	chr4:616800-624200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:617000-617200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:617000-617600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:617000-618200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:617200-618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:617200-619800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:617400-617600	Bivalent Enhancer	Placenta	Placenta
18	chr4:617400-617800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:617600-619600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:617600-619800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:617600-620000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr4:617600-620200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:617600-620200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:617800-618200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:618000-618400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:618000-619800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:618200-618400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:618200-618400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:618200-618400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:618200-618800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:618200-618800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:618200-619200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:618200-619200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:618200-619200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:618200-619200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:618200-619600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:618200-619600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:618400-619200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:618400-619200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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