Variant report

Variant	nsv981322
Chromosome Location	chr6:23781341-23791763
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	chr6:23784877..23787259-chr6:23789996..23792696,2	K562	blood:
2	chr6:23784877..23787259-chr6:23789996..23792696,2	K562	blood:

Extended variants
information (count: 456 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539974628	chr6:23781616-23781617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180995478	chr6:23781639-23781640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143119068	chr6:23781644-23781645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563795615	chr6:23781656-23781657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200599259	chr6:23781657-23781658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557419316	chr6:23781661-23781662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10456039	chr6:23781663-23781664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12200386	chr6:23781694-23781695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555317351	chr6:23781702-23781703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556813470	chr6:23781705-23781706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115736882	chr6:23781715-23781716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574110855	chr6:23781732-23781733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542407709	chr6:23781762-23781763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554330011	chr6:23781773-23781774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185773431	chr6:23781781-23781782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375065165	chr6:23783815-23783816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546888543	chr6:23783842-23783843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564933472	chr6:23783864-23783865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532006343	chr6:23783879-23783880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140880276	chr6:23783905-23783906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563812216	chr6:23783918-23783919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75218146	chr6:23783941-23783942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374517605	chr6:23783942-23783943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386406480	chr6:23783948-23783949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs398072714	chr6:23783950-23783951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531024930	chr6:23783958-23783959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549138278	chr6:23783966-23783967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567431157	chr6:23783970-23783971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528604396	chr6:23784007-23784008	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546775749	chr6:23784009-23784010	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114706832	chr6:23784023-23784024	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538642525	chr6:23784031-23784032	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112268454	chr6:23784038-23784039	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569147657	chr6:23784067-23784068	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199680583	chr6:23784073-23784074	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398065663	chr6:23784075-23784076	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184392934	chr6:23784076-23784077	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147812701	chr6:23784081-23784082	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71812341	chr6:23784098-23784099	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9356898	chr6:23784118-23784119	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6939526	chr6:23784133-23784134	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9379581	chr6:23784138-23784139	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141359954	chr6:23784147-23784148	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552661707	chr6:23784189-23784190	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189488486	chr6:23784194-23784195	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576093222	chr6:23784200-23784201	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543827453	chr6:23784205-23784206	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376677309	chr6:23784236-23784237	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574820457	chr6:23784265-23784266	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181954389	chr6:23784267-23784268	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23781600-23781800	Enhancers	Fetal Kidney	kidney
2	chr6:23783800-23785000	Enhancers	Fetal Kidney	kidney
3	chr6:23784000-23784200	Active TSS	Aorta	Aorta
4	chr6:23784000-23784400	Enhancers	Fetal Stomach	stomach
5	chr6:23784200-23784400	Flanking Active TSS	Aorta	Aorta
6	chr6:23784200-23784800	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:23784200-23786000	Enhancers	Colon Smooth Muscle	Colon
8	chr6:23784400-23784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:23784400-23785000	Enhancers	Aorta	Aorta
10	chr6:23784400-23785200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:23784400-23785200	Weak transcription	Fetal Stomach	stomach
12	chr6:23784600-23785200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:23785000-23786000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:23785000-23786000	Weak transcription	Fetal Kidney	kidney
15	chr6:23785200-23785600	Enhancers	Fetal Stomach	stomach
16	chr6:23785200-23786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:23785200-23786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:23785400-23786400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:23785600-23785800	Weak transcription	Fetal Stomach	stomach
20	chr6:23785800-23786200	Enhancers	Fetal Stomach	stomach
21	chr6:23786000-23786200	Enhancers	Fetal Kidney	kidney
22	chr6:23786200-23790000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:23790000-23790400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:23790000-23790600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:23790200-23791800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:23790800-23791800	Enhancers	Fetal Brain Male	brain
27	chr6:23791400-23791800	Enhancers	Aorta	Aorta

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