Variant report

Variant	esv32745
Chromosome Location	chr4:3812073-3813870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3811726..3813926-chr4:3814781..3817425,2	MCF-7	breast:
2	chr4:3811417..3813091-chr4:3826463..3828582,2	MCF-7	breast:
3	chr4:3813333..3816584-chr4:3828376..3830899,3	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558892424	chr4:3812078-3812079	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs575573989	chr4:3812096-3812097	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs562953953	chr4:3812103-3812104	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs28488412	chr4:3812119-3812120	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556986334	chr4:3812123-3812124	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs574028863	chr4:3812172-3812173	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs542831411	chr4:3812176-3812177	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs62291097	chr4:3812189-3812190	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs28454988	chr4:3812204-3812205	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181467632	chr4:3812205-3812206	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs28524817	chr4:3812249-3812250	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564862500	chr4:3812268-3812269	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs530432720	chr4:3812278-3812279	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs28409981	chr4:3812286-3812287	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561244087	chr4:3812298-3812299	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs530367318	chr4:3812299-3812300	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs546885952	chr4:3812303-3812304	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs546775890	chr4:3812315-3812316	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs566754376	chr4:3812341-3812342	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs185322866	chr4:3812345-3812346	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs552408407	chr4:3812357-3812358	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs569195028	chr4:3812367-3812368	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs189848725	chr4:3812385-3812386	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs533473113	chr4:3812437-3812438	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs377007451	chr4:3812457-3812458	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs371155995	chr4:3812458-3812459	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs370025418	chr4:3812459-3812460	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs374886678	chr4:3812460-3812461	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs369586811	chr4:3812464-3812465	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs75103399	chr4:3812465-3812466	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs536575470	chr4:3812477-3812478	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs553175354	chr4:3812499-3812500	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs148677543	chr4:3812501-3812502	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs28615368	chr4:3812502-3812503	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs142244981	chr4:3812506-3812507	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs575345564	chr4:3812510-3812511	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs543855634	chr4:3812517-3812518	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs182127400	chr4:3812518-3812519	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs146056844	chr4:3812552-3812553	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs115137105	chr4:3812578-3812579	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs560281419	chr4:3812605-3812606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113961282	chr4:3812631-3812632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552596197	chr4:3812645-3812646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575740352	chr4:3812671-3812672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377057307	chr4:3812703-3812704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71636733	chr4:3812712-3812713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140041221	chr4:3812736-3812737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377162859	chr4:3812746-3812747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539865051	chr4:3812768-3812769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568485227	chr4:3812773-3812774	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3811800-3812600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr4:3811800-3813400	Enhancers	HepG2	liver
3	chr4:3812000-3812200	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr4:3812000-3812800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3812000-3813000	Enhancers	Pancreas	Pancrea
6	chr4:3812800-3813400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3813400-3813800	Weak transcription	HepG2	liver
8	chr4:3813400-3815400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3813800-3815200	Enhancers	HepG2	liver

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