Variant report

Variant	esv3323036
Chromosome Location	chr6:26958873-26965871
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	chr6:26962343..26965289-chr6:26986491..26988275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224843	chromatin interactions
ENSG00000238621	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185521708	chr6:26958905-26958906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535948295	chr6:26958906-26958907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9467937	chr6:26958943-26958944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566093546	chr6:26958946-26958947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143444034	chr6:26958985-26958986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554156607	chr6:26959054-26959055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139038112	chr6:26959063-26959064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190229251	chr6:26959100-26959101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9467938	chr6:26959133-26959134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576030848	chr6:26959157-26959158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541927084	chr6:26959180-26959181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561333603	chr6:26959191-26959192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9467939	chr6:26959245-26959246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3999221	chr6:26959322-26959323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564479099	chr6:26959392-26959393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12198051	chr6:26959396-26959397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2984025	chr6:26959402-26959403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563928826	chr6:26959419-26959420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150642851	chr6:26959517-26959518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529334617	chr6:26959523-26959524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9467940	chr6:26959537-26959538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566056536	chr6:26959612-26959613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569844305	chr6:26959692-26959693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9461312	chr6:26959709-26959710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537212498	chr6:26959733-26959734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182754833	chr6:26959769-26959770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11491477	chr6:26959776-26959777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570712573	chr6:26959777-26959778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9461313	chr6:26959852-26959853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202195272	chr6:26959876-26959877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576223868	chr6:26959891-26959892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13197131	chr6:26959901-26959902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535180668	chr6:26959908-26959909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555092033	chr6:26960088-26960089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4713066	chr6:26960089-26960090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs535013546	chr6:26960139-26960140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540581379	chr6:26960173-26960174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563740151	chr6:26960203-26960204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553668137	chr6:26960222-26960223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116371072	chr6:26960241-26960242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541874683	chr6:26960242-26960243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187782641	chr6:26960261-26960262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192260151	chr6:26960271-26960272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529517101	chr6:26960305-26960306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377515918	chr6:26960386-26960387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549490574	chr6:26960426-26960427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559845873	chr6:26960501-26960502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183929637	chr6:26960508-26960509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113429127	chr6:26960510-26960511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187368693	chr6:26960588-26960589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	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
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
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	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
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26953600-26966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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