Variant report

Variant	nsv965799
Chromosome Location	chr6:26909641-26916801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4634448	chr6:26911653-26911654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144419540	chr6:26911791-26911792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183722185	chr6:26911885-26911886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576125795	chr6:26911886-26911887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189111856	chr6:26912005-26912006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542515832	chr6:26912022-26912023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562247649	chr6:26912028-26912029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527846041	chr6:26912040-26912041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541305288	chr6:26912111-26912112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564603122	chr6:26912120-26912121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4351253	chr6:26912135-26912136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564808484	chr6:26912210-26912211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114321449	chr6:26912231-26912232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569687129	chr6:26912250-26912251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4351255	chr6:26912307-26912308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4278004	chr6:26912325-26912326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529252467	chr6:26912421-26912422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202133022	chr6:26912499-26912500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184189939	chr6:26914219-26914220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188178142	chr6:26914245-26914246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542989761	chr6:26914394-26914395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559456009	chr6:26914415-26914416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180974875	chr6:26914420-26914421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6917814	chr6:26914425-26914426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564384141	chr6:26914554-26914555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565233123	chr6:26914567-26914568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10946881	chr6:26914611-26914612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs7755054	chr6:26914643-26914644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569747893	chr6:26914684-26914685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12182270	chr6:26914697-26914698	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Lung cancer	21569311	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26911600-26912600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:26914200-26914800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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