Variant report

Variant	esv3473887
Chromosome Location	chr6:30207648-30208353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30208093..30209840-chr6:30213233..30214788,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527632053	chr6:30207654-30207655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534336679	chr6:30207669-30207670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185001785	chr6:30207689-30207690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141987551	chr6:30207695-30207696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35848695	chr6:30207726-30207727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549633288	chr6:30207771-30207772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569765277	chr6:30207773-30207774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548612145	chr6:30207818-30207819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62407535	chr6:30207830-30207831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62407536	chr6:30207833-30207834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62407537	chr6:30207841-30207842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62407538	chr6:30207845-30207846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148231179	chr6:30207850-30207851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375840730	chr6:30207864-30207865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62407539	chr6:30207865-30207866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62407540	chr6:30207870-30207871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62407541	chr6:30207872-30207873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62407542	chr6:30207877-30207878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113131373	chr6:30207883-30207884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370200240	chr6:30207895-30207896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559284608	chr6:30207927-30207928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368349391	chr6:30207929-30207930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577387888	chr6:30207930-30207931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539886437	chr6:30207931-30207932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546440444	chr6:30207975-30207976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141209775	chr6:30208086-30208087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576509864	chr6:30208088-30208089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59221320	chr6:30208110-30208111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542200761	chr6:30208111-30208112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60614899	chr6:30208119-30208120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562105688	chr6:30208189-30208190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60073706	chr6:30208192-30208193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59123856	chr6:30208196-30208197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572332348	chr6:30208211-30208212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57564440	chr6:30208215-30208216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61664453	chr6:30208227-30208228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376468328	chr6:30208250-30208251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28700039	chr6:30208266-30208267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563852096	chr6:30208301-30208302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532203998	chr6:30208335-30208336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9688547	chr6:30208345-30208346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200522332	chr6:30208351-30208352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77578480	chr6:30208352-30208353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30205600-30213000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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