Variant report

Variant	esv11566
Chromosome Location	chr4:7498262-7498976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 54 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565587352	chr4:7498287-7498288	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113184777	chr4:7498300-7498301	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530368078	chr4:7498321-7498322	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547837049	chr4:7498339-7498340	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569430047	chr4:7498352-7498353	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151160474	chr4:7498359-7498360	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114856296	chr4:7498401-7498402	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28496923	chr4:7498477-7498478	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534643096	chr4:7498478-7498479	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553232932	chr4:7498479-7498480	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386671234	chr4:7498481-7498482	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9647414	chr4:7498482-7498483	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73212580	chr4:7498493-7498494	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557043541	chr4:7498494-7498495	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570477213	chr4:7498502-7498503	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374122439	chr4:7498506-7498507	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546302912	chr4:7498507-7498508	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376244011	chr4:7498509-7498510	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564709718	chr4:7498556-7498557	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9647415	chr4:7498563-7498564	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187944748	chr4:7498575-7498576	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373927134	chr4:7498576-7498577	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529527725	chr4:7498577-7498578	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548192030	chr4:7498601-7498602	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144060374	chr4:7498611-7498612	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146418780	chr4:7498623-7498624	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530555996	chr4:7498648-7498649	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386671235	chr4:7498657-7498658	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111255435	chr4:7498658-7498659	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6818189	chr4:7498659-7498660	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6813094	chr4:7498714-7498715	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552855955	chr4:7498716-7498717	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368491198	chr4:7498717-7498718	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535363473	chr4:7498726-7498727	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557424431	chr4:7498731-7498732	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575700073	chr4:7498741-7498742	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539985394	chr4:7498750-7498751	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6818395	chr4:7498764-7498765	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573334734	chr4:7498788-7498789	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540837498	chr4:7498812-7498813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73212581	chr4:7498852-7498853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9647418	chr4:7498864-7498865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557616613	chr4:7498885-7498886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562988390	chr4:7498886-7498887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530425444	chr4:7498896-7498897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551712679	chr4:7498907-7498908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368957596	chr4:7498924-7498925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563852101	chr4:7498956-7498957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13114663	chr4:7498975-7498976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190609178	chr4:7498976-7498977	Enhancers Weak transcription	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:11 , 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	chr4:7497600-7500800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:7497600-7501000	Weak transcription	Brain Anterior Caudate	brain
4	chr4:7497600-7501000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:7497800-7498800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr4:7497800-7501200	Weak transcription	Brain Substantia Nigra	brain
7	chr4:7498000-7500200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:7498200-7499200	Enhancers	Brain Germinal Matrix	brain
9	chr4:7498400-7499000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:7498600-7498800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:7498600-7499000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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