Variant report

Variant	esv3468133
Chromosome Location	chr4:7496638-7499711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67333808	chr4:7496638-7496639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536450889	chr4:7496657-7496658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555107338	chr4:7496694-7496695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180987622	chr4:7496700-7496701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537725085	chr4:7496791-7496792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556225239	chr4:7496796-7496797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138817791	chr4:7496800-7496801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs368970736	chr4:7496823-7496824	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs545167685	chr4:7496831-7496832	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs73212579	chr4:7496838-7496839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142969188	chr4:7496843-7496844	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs184413729	chr4:7496856-7496857	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs4689131	chr4:7496857-7496858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs147451412	chr4:7496869-7496870	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs543297081	chr4:7496886-7496887	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs189036555	chr4:7496904-7496905	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs139907295	chr4:7496905-7496906	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs181479230	chr4:7496914-7496915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs538451625	chr4:7496915-7496916	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs559603783	chr4:7496953-7496954	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs74486889	chr4:7497006-7497007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554513388	chr4:7497025-7497026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548524512	chr4:7497026-7497027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185543197	chr4:7497035-7497036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537382250	chr4:7497054-7497055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12647831	chr4:7497057-7497058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571108899	chr4:7497058-7497059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74342351	chr4:7497064-7497065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553766812	chr4:7497084-7497085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4689759	chr4:7497096-7497097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4689760	chr4:7497098-7497099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572066932	chr4:7497128-7497129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536322734	chr4:7497133-7497134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554502224	chr4:7497153-7497154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536432334	chr4:7497154-7497155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62280169	chr4:7497184-7497185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190795680	chr4:7497188-7497189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564839612	chr4:7497220-7497221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576687391	chr4:7497244-7497245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77073032	chr4:7497250-7497251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75472385	chr4:7497272-7497273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530166748	chr4:7497276-7497277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145649710	chr4:7497293-7497294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570250766	chr4:7497298-7497299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111827647	chr4:7497345-7497346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7691035	chr4:7497346-7497347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560296815	chr4:7497348-7497349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144416102	chr4:7497366-7497367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7667296	chr4:7497375-7497376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571174434	chr4:7497383-7497384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7490200-7498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:7496400-7497800	Enhancers	Brain Substantia Nigra	brain
3	chr4:7496600-7497600	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:7496800-7497000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:7496800-7497600	Enhancers	Brain Anterior Caudate	brain
6	chr4:7496800-7498000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr4:7497000-7497800	Enhancers	Brain Hippocampus Middle	brain
8	chr4:7497200-7497400	Enhancers	Brain Angular Gyrus	brain
9	chr4:7497400-7497600	Enhancers	Brain Germinal Matrix	brain
10	chr4:7497400-7497600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7497400-7497600	Bivalent Enhancer	Fetal Stomach	stomach
12	chr4:7497600-7498200	Weak transcription	Brain Germinal Matrix	brain
13	chr4:7497600-7500800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:7497600-7501000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:7497600-7501000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:7497800-7498800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr4:7497800-7501200	Weak transcription	Brain Substantia Nigra	brain
18	chr4:7498000-7500200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:7498200-7499200	Enhancers	Brain Germinal Matrix	brain
20	chr4:7498400-7499000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:7498600-7498800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr4:7498600-7499000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7499000-7500800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:7499200-7499600	Weak transcription	Brain Germinal Matrix	brain
25	chr4:7499600-7502200	Enhancers	Brain Germinal Matrix	brain

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