Variant report

Variant	nsv823703
Chromosome Location	chr6:56182448-56189664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56178358..56181884-chr6:56184796..56186667,3	K562	blood:
2	chr6:56180827..56183600-chr6:56183736..56185920,2	MCF-7	breast:
3	chr6:56180827..56183600-chr6:56183736..56185920,2	MCF-7	breast:
4	chr6:56175903..56178610-chr6:56182737..56184492,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570604716	chr6:56186842-56186843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539639127	chr6:56186896-56186897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188270926	chr6:56186957-56186958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569444681	chr6:56187013-56187014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562915803	chr6:56187035-56187036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116329640	chr6:56187057-56187058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181285793	chr6:56187071-56187072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544862841	chr6:56187072-56187073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116018869	chr6:56187078-56187079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62411946	chr6:56187102-56187103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10948995	chr6:56187104-56187105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554450386	chr6:56187180-56187181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9475672	chr6:56187208-56187209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9475673	chr6:56187232-56187233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138735926	chr6:56187281-56187282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13211216	chr6:56187302-56187303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542332172	chr6:56187324-56187325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566633095	chr6:56187341-56187342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562123775	chr6:56187400-56187401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185543246	chr6:56187448-56187449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190687519	chr6:56187465-56187466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183317650	chr6:56187515-56187516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533060167	chr6:56187523-56187524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529210148	chr6:56187562-56187563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549591686	chr6:56187572-56187573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77257161	chr6:56187604-56187605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72871790	chr6:56187609-56187610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186876194	chr6:56187631-56187632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374244562	chr6:56187639-56187640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368811871	chr6:56187643-56187644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192067899	chr6:56187659-56187660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73745463	chr6:56187673-56187674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9357910	chr6:56187681-56187682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557435561	chr6:56187682-56187683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386407164	chr6:56187697-56187698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs70986802	chr6:56187699-56187700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57083315	chr6:56187700-56187701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577502356	chr6:56187738-56187739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184044265	chr6:56187743-56187744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541621237	chr6:56187766-56187767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576719091	chr6:56187774-56187775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150764372	chr6:56187781-56187782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562183049	chr6:56187785-56187786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56407044	chr6:56187793-56187794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77107648	chr6:56187808-56187809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541447813	chr6:56187856-56187857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561589462	chr6:56187858-56187859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11967497	chr6:56187949-56187950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533306656	chr6:56187963-56187964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549657215	chr6:56187992-56187993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Central neurocytomas	17123091	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56186800-56189600	Weak transcription	Aorta	Aorta
2	chr6:56189000-56189200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:56189200-56189400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:56189400-56193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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