Variant report

Variant	esv3333744
Chromosome Location	chr4:20523804-20525675
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	MAZ	chr4:20524663-20524733	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20523924..20528814-chr4:20529979..20533710,4	K562	blood:
2	chr4:20523924..20526159-chr4:20529979..20531952,2	K562	blood:

Variant related genes	Relation type
MIR218-1	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146658029	chr4:20523809-20523810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561738963	chr4:20523857-20523858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557638251	chr4:20523858-20523859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541478944	chr4:20523905-20523906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541701605	chr4:20523975-20523976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112193379	chr4:20523984-20523985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527608537	chr4:20523991-20523992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552323878	chr4:20523996-20523997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116662014	chr4:20524071-20524072	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531422878	chr4:20524113-20524114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145284381	chr4:20524121-20524122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576694042	chr4:20524151-20524152	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568038577	chr4:20524189-20524190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34978675	chr4:20524216-20524217	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150955500	chr4:20524279-20524280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553502394	chr4:20524305-20524306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9994080	chr4:20524350-20524351	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539747641	chr4:20524461-20524462	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558290515	chr4:20524474-20524475	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575899234	chr4:20524480-20524481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116217824	chr4:20524520-20524521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543507926	chr4:20524527-20524528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190780876	chr4:20524531-20524532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573683887	chr4:20524544-20524545	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541384384	chr4:20524558-20524559	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559513060	chr4:20524561-20524562	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183302844	chr4:20524565-20524566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189148651	chr4:20524611-20524612	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564299973	chr4:20524613-20524614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531562602	chr4:20524628-20524629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140777767	chr4:20524654-20524655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28652800	chr4:20524690-20524691	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529018411	chr4:20524713-20524714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16869706	chr4:20524715-20524716	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565548842	chr4:20524754-20524755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540116808	chr4:20524772-20524773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551834553	chr4:20524876-20524877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569893843	chr4:20524915-20524916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150129244	chr4:20524921-20524922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192192737	chr4:20524924-20524925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182889614	chr4:20524931-20524932	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376013031	chr4:20524975-20524976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146685970	chr4:20525019-20525020	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369585704	chr4:20525021-20525022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138596896	chr4:20525058-20525059	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187767844	chr4:20525059-20525060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577983684	chr4:20525106-20525107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546077613	chr4:20525116-20525117	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548679611	chr4:20525195-20525196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564415768	chr4:20525221-20525222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
3	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:20490800-20529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:20492000-20534800	Weak transcription	Fetal Kidney	kidney
6	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
7	chr4:20508800-20534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:20513200-20534600	Weak transcription	Fetal Brain Male	brain
10	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
11	chr4:20520600-20526200	Strong transcription	Fetal Lung	lung
12	chr4:20520600-20539600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:20521200-20535400	Weak transcription	Spleen	Spleen
14	chr4:20521400-20529600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:20523000-20529800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:20523000-20530400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:20523000-20532600	Weak transcription	NHLF	lung
18	chr4:20523200-20524600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:20523200-20524800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:20523200-20530400	Weak transcription	Osteobl	bone
21	chr4:20523200-20534000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:20523200-20535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:20523400-20526000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:20523400-20529600	Weak transcription	HSMM	muscle
25	chr4:20523400-20529600	Strong transcription	NHDF-Ad	bronchial
26	chr4:20523400-20529800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:20523400-20529800	Weak transcription	NHEK	skin
28	chr4:20524200-20555200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:20524600-20527400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:20524800-20529600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:20525000-20536600	Weak transcription	Gastric	stomach
32	chr4:20525200-20555400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:20525400-20526000	Strong transcription	Colon Smooth Muscle	Colon

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