Variant report

Variant	nsv981122
Chromosome Location	chr6:28525054-28526283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566306246	chr6:28525096-28525097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537068279	chr6:28525108-28525109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376001869	chr6:28525198-28525199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566812973	chr6:28525201-28525202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550563409	chr6:28525218-28525219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140397747	chr6:28525255-28525256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536191562	chr6:28525263-28525264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9295772	chr6:28525265-28525266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs151191361	chr6:28525273-28525274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9295773	chr6:28525301-28525302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9348806	chr6:28525379-28525380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371507423	chr6:28525442-28525443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183764558	chr6:28525448-28525449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186688476	chr6:28525527-28525528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192321865	chr6:28525540-28525541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149948622	chr6:28525542-28525543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574267681	chr6:28525546-28525547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543379227	chr6:28525547-28525548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576563618	chr6:28525570-28525571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576539023	chr6:28525598-28525599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13204325	chr6:28525621-28525622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528718472	chr6:28525623-28525624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148409951	chr6:28525662-28525663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7756053	chr6:28525669-28525670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190113000	chr6:28525670-28525671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530381115	chr6:28525671-28525672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550550180	chr6:28525685-28525686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572676147	chr6:28525695-28525696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567188946	chr6:28525696-28525697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142509240	chr6:28525722-28525723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552792638	chr6:28525758-28525759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112326468	chr6:28525813-28525814	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371943544	chr6:28525830-28525831	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546515032	chr6:28525855-28525856	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566300662	chr6:28525883-28525884	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538461613	chr6:28525887-28525888	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs574606095	chr6:28525895-28525896	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9468390	chr6:28525926-28525927	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs117066948	chr6:28525996-28525997	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs578050672	chr6:28526037-28526038	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181866170	chr6:28526050-28526051	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs557308890	chr6:28526111-28526112	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs434636	chr6:28526156-28526157	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563616688	chr6:28526255-28526256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533478227	chr6:28526277-28526278	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
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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28523200-28530600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:28523400-28528600	Weak transcription	K562	blood
3	chr6:28523600-28531400	Weak transcription	HepG2	liver
4	chr6:28525800-28526200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:28525800-28526200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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