Variant report

Variant	nsv970704
Chromosome Location	chr6:140672576-140676024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140671269..140674164-chr6:140674183..140677907,3	K562	blood:
2	chr6:140670786..140673738-chr6:140751539..140753328,2	K562	blood:
3	chr6:140671269..140674164-chr6:140674183..140677907,3	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 83 )

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	rs374602557	chr6:140672597-140672598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576787587	chr6:140672611-140672612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186930606	chr6:140672617-140672618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546171401	chr6:140672631-140672632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs477498	chr6:140672641-140672642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs191998951	chr6:140672681-140672682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12211063	chr6:140672685-140672686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534870042	chr6:140672697-140672698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143357223	chr6:140672763-140672764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569064990	chr6:140672846-140672847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372134517	chr6:140672858-140672859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539708675	chr6:140672946-140672947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557933066	chr6:140672999-140673000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557713047	chr6:140673031-140673032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542174096	chr6:140673084-140673085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9389797	chr6:140673086-140673087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111247684	chr6:140673312-140673313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548489240	chr6:140673314-140673315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562235514	chr6:140673326-140673327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571399959	chr6:140673330-140673331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531127427	chr6:140673377-140673378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17069935	chr6:140673413-140673414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555910180	chr6:140673430-140673431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149957947	chr6:140673433-140673434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185371563	chr6:140673458-140673459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189978302	chr6:140673497-140673498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553886977	chr6:140673549-140673550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569755980	chr6:140673564-140673565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533503505	chr6:140673597-140673598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545663164	chr6:140673620-140673621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560558585	chr6:140673640-140673641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144871414	chr6:140673647-140673648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35336300	chr6:140673665-140673666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568450556	chr6:140673675-140673676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182188681	chr6:140673676-140673677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370189415	chr6:140673685-140673686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534216912	chr6:140673704-140673705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532153583	chr6:140673733-140673734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187336850	chr6:140673761-140673762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547714593	chr6:140673816-140673817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375208947	chr6:140673831-140673832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550200838	chr6:140673868-140673869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112876682	chr6:140673877-140673878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568830451	chr6:140673903-140673904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190198740	chr6:140673925-140673926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183457405	chr6:140673951-140673952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149030642	chr6:140673969-140673970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533996877	chr6:140673971-140673972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555563334	chr6:140673997-140673998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188467425	chr6:140674004-140674005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Gastric cancer	17908304	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
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
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140668400-140674400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:140669000-140676400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:140670600-140672800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:140671600-140672800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:140671800-140672600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:140672200-140672600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:140672200-140672800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:140672400-140672800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:140672400-140673400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:140672600-140674400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:140672800-140673800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:140674000-140674200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:140674200-140674600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:140674400-140674600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:140674400-140675200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:140675200-140683000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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