Variant report

Variant	nsv513296
Chromosome Location	chr6:5896617-5900093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5893167..5895120-chr6:5895879..5897859,2	K562	blood:
2	chr6:5895870..5898322-chr6:5901003..5902860,2	K562	blood:
3	chr6:5422389..5423223-chr6:5898415..5898938,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536929910	chr6:5896625-5896626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539681697	chr6:5896693-5896694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557772777	chr6:5896751-5896752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566633454	chr6:5896777-5896778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12191239	chr6:5896793-5896794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184086705	chr6:5896835-5896836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558158967	chr6:5896837-5896838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114807641	chr6:5896851-5896852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139437202	chr6:5896855-5896856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577967190	chr6:5896890-5896891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12191308	chr6:5896899-5896900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187448822	chr6:5896927-5896928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527850179	chr6:5896949-5896950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543226445	chr6:5896950-5896951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67962142	chr6:5896982-5896983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80291928	chr6:5897004-5897005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12211137	chr6:5897007-5897008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192299368	chr6:5897013-5897014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550707241	chr6:5897014-5897015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568791376	chr6:5897033-5897034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563405276	chr6:5897034-5897035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532813524	chr6:5897064-5897065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74551875	chr6:5897065-5897066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9504571	chr6:5897082-5897083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113402462	chr6:5897098-5897099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567164850	chr6:5897112-5897113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537907795	chr6:5897119-5897120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79979994	chr6:5897170-5897171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373288822	chr6:5897188-5897189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577940487	chr6:5897190-5897191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545087223	chr6:5897222-5897223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554170153	chr6:5897243-5897244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572626677	chr6:5897260-5897261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77790689	chr6:5897328-5897329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561429631	chr6:5897349-5897350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576715297	chr6:5897427-5897428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370663745	chr6:5897465-5897466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148520549	chr6:5897529-5897530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200583216	chr6:5897545-5897546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544298726	chr6:5897584-5897585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71540884	chr6:5897635-5897636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6929188	chr6:5897649-5897650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60760884	chr6:5897653-5897654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377085318	chr6:5897693-5897694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369468054	chr6:5897695-5897696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150306646	chr6:5897696-5897697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9504572	chr6:5897697-5897698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71312604	chr6:5897699-5897700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74207251	chr6:5897705-5897706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11243038	chr6:5897768-5897769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5892800-5897000	Weak transcription	Fetal Brain Female	brain
2	chr6:5893000-5898400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:5893200-5899000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:5896000-5898200	Weak transcription	NHDF-Ad	bronchial
5	chr6:5896600-5897000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:5897000-5897400	Enhancers	Fetal Brain Female	brain
7	chr6:5897200-5897400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:5898200-5899800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:5898200-5900000	Enhancers	NHDF-Ad	bronchial
10	chr6:5898400-5898600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:5898400-5899200	Enhancers	Adipose Nuclei	Adipose
12	chr6:5898600-5898800	Enhancers	Pancreas	Pancrea
13	chr6:5898600-5899400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:5898800-5899000	Weak transcription	Pancreas	Pancrea
15	chr6:5899000-5899200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:5899200-5900600	Weak transcription	Adipose Nuclei	Adipose
17	chr6:5899400-5899800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:5899800-5905200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:5899800-5905400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:5900000-5904400	Weak transcription	NHDF-Ad	bronchial

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