Variant report

Variant	esv3416336
Chromosome Location	chr4:3611272-3612856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143470245	chr4:3611277-3611278	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs5027866	chr4:3611291-3611292	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs543677614	chr4:3611298-3611299	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs563182213	chr4:3611315-3611316	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs573572174	chr4:3611333-3611334	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs542366319	chr4:3611358-3611359	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs558975436	chr4:3611393-3611394	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528682695	chr4:3611402-3611403	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4990929	chr4:3611420-3611421	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551526601	chr4:3611472-3611473	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4990930	chr4:3611474-3611475	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4990931	chr4:3611517-3611518	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4990932	chr4:3611542-3611543	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4990933	chr4:3611553-3611554	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4990934	chr4:3611559-3611560	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201377740	chr4:3611567-3611568	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375728492	chr4:3611568-3611569	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199641916	chr4:3611575-3611576	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5855803	chr4:3611585-3611586	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532620046	chr4:3611586-3611587	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35439105	chr4:3611587-3611588	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5855801	chr4:3611594-3611595	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4990935	chr4:3611627-3611628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531139423	chr4:3611637-3611638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2344270	chr4:3611651-3611652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2344271	chr4:3611655-3611656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2344272	chr4:3611663-3611664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2344273	chr4:3611672-3611673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2344274	chr4:3611680-3611681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2344275	chr4:3611683-3611684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7436906	chr4:3611695-3611696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2344276	chr4:3611698-3611699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2344277	chr4:3611702-3611703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536610355	chr4:3611722-3611723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546784008	chr4:3611734-3611735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs7442570	chr4:3611735-3611736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373544638	chr4:3611768-3611769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377486174	chr4:3611774-3611775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369092413	chr4:3611775-3611776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376147856	chr4:3611783-3611784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566934006	chr4:3611786-3611787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539117123	chr4:3611805-3611806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558010747	chr4:3611832-3611833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111066710	chr4:3611851-3611852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571462814	chr4:3611853-3611854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs536985756	chr4:3611855-3611856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557178675	chr4:3611878-3611879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573559403	chr4:3611884-3611885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542581076	chr4:3611914-3611915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111203547	chr4:3611926-3611927	Weak transcription ZNF genes & repeats	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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3601600-3611600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:3605200-3611400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3608800-3611400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:3610000-3614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:3610400-3611400	ZNF genes & repeats	Fetal Brain Female	brain
6	chr4:3610400-3612200	ZNF genes & repeats	Spleen	Spleen
7	chr4:3610800-3611400	ZNF genes & repeats	Fetal Brain Male	brain
8	chr4:3611000-3611400	Enhancers	Esophagus	oesophagus
9	chr4:3611200-3611600	Enhancers	Fetal Muscle Leg	muscle
10	chr4:3611400-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:3611600-3612600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:3611600-3614400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:3612600-3613200	ZNF genes & repeats	Spleen	Spleen
14	chr4:3612600-3615000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:3612800-3613200	ZNF genes & repeats	Pancreas	Pancrea
16	chr4:3612800-3613400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:3612800-3613400	ZNF genes & repeats	Gastric	stomach

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