Variant report

Variant	nsv970064
Chromosome Location	chr6:145921494-145933513
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	chr6:145929886..145932871-chr6:145934961..145937093,2	MCF-7	breast:

Extended variants
information (count: 381 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546472463	chr6:145921579-145921580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576688558	chr6:145921585-145921586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34197386	chr6:145921593-145921594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370407996	chr6:145921638-145921639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556942785	chr6:145921675-145921676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138334648	chr6:145921676-145921677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540441751	chr6:145921695-145921696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374920181	chr6:145921734-145921735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75420651	chr6:145921744-145921745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545762985	chr6:145921796-145921797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114155471	chr6:145921800-145921801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562960952	chr6:145921838-145921839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368579758	chr6:145921842-145921843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149107386	chr6:145921845-145921846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551773609	chr6:145921885-145921886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116849140	chr6:145921889-145921890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527571050	chr6:145921914-145921915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552643361	chr6:145921927-145921928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182462281	chr6:145921936-145921937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372807645	chr6:145921995-145921996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6941077	chr6:145922028-145922029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143199854	chr6:145922075-145922076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569512837	chr6:145922087-145922088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571272704	chr6:145922158-145922159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187058986	chr6:145922226-145922227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200183741	chr6:145922342-145922343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553317175	chr6:145922352-145922353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573234994	chr6:145922446-145922447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540503340	chr6:145922477-145922478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374516013	chr6:145922503-145922504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190841757	chr6:145922530-145922531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377327879	chr6:145922541-145922542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368659668	chr6:145922575-145922576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34816157	chr6:145922626-145922627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77166037	chr6:145922630-145922631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562865281	chr6:145922656-145922657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533433226	chr6:145922671-145922672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545455945	chr6:145922682-145922683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34466555	chr6:145922704-145922705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6903252	chr6:145922777-145922778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs530167201	chr6:145922783-145922784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527634249	chr6:145922788-145922789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148238969	chr6:145922789-145922790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74662802	chr6:145922797-145922798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182988535	chr6:145922802-145922803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77320415	chr6:145922812-145922813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141267439	chr6:145922816-145922817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76723095	chr6:145922819-145922820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75548622	chr6:145922890-145922891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565333500	chr6:145922918-145922919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145921200-145922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:145921400-145922000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:145921400-145922000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:145921600-145922200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:145922000-145926000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:145923600-145924400	Enhancers	Psoas Muscle	Psoas
7	chr6:145923600-145924600	Enhancers	Fetal Muscle Leg	muscle
8	chr6:145923800-145924800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:145924000-145924600	Enhancers	Adipose Nuclei	Adipose
10	chr6:145924200-145924400	Enhancers	Left Ventricle	heart
11	chr6:145924400-145948200	Weak transcription	Left Ventricle	heart
12	chr6:145926000-145926200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:145926200-145926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:145930600-145931000	Enhancers	Adipose Nuclei	Adipose

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