Variant report

Variant	esv9498
Chromosome Location	chr4:3611927-3612749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552665592	chr4:3611929-3611930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111203548	chr4:3611932-3611933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376228239	chr4:3611941-3611942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111066711	chr4:3611971-3611972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200200972	chr4:3611997-3611998	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111163271	chr4:3612011-3612012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111163272	chr4:3612015-3612016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62644726	chr4:3612028-3612029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200028204	chr4:3612032-3612033	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140796994	chr4:3612033-3612034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs202077591	chr4:3612056-3612057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111163273	chr4:3612075-3612076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs148985820	chr4:3612082-3612083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370910100	chr4:3612083-3612084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111161246	chr4:3612095-3612096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111216430	chr4:3612101-3612102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111216437	chr4:3612109-3612110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111216467	chr4:3612131-3612132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111161247	chr4:3612144-3612145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527548546	chr4:3612182-3612183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376476109	chr4:3612184-3612185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543414241	chr4:3612190-3612191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111161248	chr4:3612197-3612198	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs376902426	chr4:3612211-3612212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554588508	chr4:3612221-3612222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574628483	chr4:3612237-3612238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111161249	chr4:3612250-3612251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111161250	chr4:3612303-3612304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565186933	chr4:3612311-3612312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376634590	chr4:3612317-3612318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531128387	chr4:3612320-3612321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377376198	chr4:3612342-3612343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202146666	chr4:3612343-3612344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372501678	chr4:3612356-3612357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111161838	chr4:3612360-3612361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374726368	chr4:3612365-3612366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368782210	chr4:3612368-3612369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371752411	chr4:3612370-3612371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374737574	chr4:3612372-3612373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368040220	chr4:3612374-3612375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544578514	chr4:3612379-3612380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371888680	chr4:3612384-3612385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376123277	chr4:3612388-3612389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369719991	chr4:3612389-3612390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557732232	chr4:3612397-3612398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549805038	chr4:3612403-3612404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370466095	chr4:3612405-3612406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111161251	chr4:3612410-3612411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373939085	chr4:3612430-3612431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62636044	chr4:3612443-3612444	Weak transcription	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3610000-3614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:3610400-3612200	ZNF genes & repeats	Spleen	Spleen
3	chr4:3611400-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3611600-3612600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:3611600-3614400	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:3612600-3613200	ZNF genes & repeats	Spleen	Spleen
7	chr4:3612600-3615000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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