Variant report

Variant	nsv464078
Chromosome Location	chr6:150720439-150729878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150723506..150725309-chr6:150728737..150730322,2	MCF-7	breast:
2	chr6:150723506..150725309-chr6:150728737..150730322,2	MCF-7	breast:
3	chr6:150720777..150722938-chr6:150732800..150734541,2	MCF-7	breast:
4	chr6:150727670..150730575-chr6:150733392..150736317,2	K562	blood:
5	chr6:150725228..150728366-chr6:150731535..150733828,3	K562	blood:
6	chr6:150717285..150719589-chr6:150720584..150722449,2	K562	blood:
7	chr6:150722584..150723485-chr6:150739885..150740902,3	K562	blood:

Extended variants
information (count: 406 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs672605	chr6:150720439-150720440	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187855996	chr6:150720465-150720466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563592613	chr6:150720478-150720479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9322260	chr6:150720494-150720495	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62432542	chr6:150720502-150720503	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577938626	chr6:150720534-150720535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs601223	chr6:150720571-150720572	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554538647	chr6:150720577-150720578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574364565	chr6:150720578-150720579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543290065	chr6:150720617-150720618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6901038	chr6:150720619-150720620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542628325	chr6:150720631-150720632	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117655742	chr6:150720719-150720720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149396571	chr6:150720738-150720739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571428691	chr6:150720778-150720779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73619523	chr6:150720784-150720785	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs193155130	chr6:150720790-150720791	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs660153	chr6:150720908-150720909	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72998948	chr6:150720920-150720921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560878398	chr6:150720947-150720948	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529938065	chr6:150720985-150720986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386707042	chr6:150720988-150720989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs659737	chr6:150720989-150720990	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35209272	chr6:150721046-150721047	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543815399	chr6:150721070-150721071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116064065	chr6:150721074-150721075	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34257671	chr6:150721087-150721088	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534225787	chr6:150721088-150721089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146369688	chr6:150721098-150721099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185342498	chr6:150721110-150721111	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536906067	chr6:150721133-150721134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80030954	chr6:150721135-150721136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374654397	chr6:150721144-150721145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544793302	chr6:150721177-150721178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139736929	chr6:150721179-150721180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143064277	chr6:150721203-150721204	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146165286	chr6:150721206-150721207	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587713	chr6:150721229-150721230	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs529950454	chr6:150721251-150721252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372840878	chr6:150721314-150721315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187327061	chr6:150721343-150721344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549632683	chr6:150721374-150721375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs657972	chr6:150721401-150721402	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs532367235	chr6:150721408-150721409	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552072974	chr6:150721426-150721427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1416481	chr6:150721430-150721431	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6911086	chr6:150721445-150721446	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs376791100	chr6:150721473-150721474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28379062	chr6:150721556-150721557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59120981	chr6:150721558-150721559	Strong transcription 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
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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150718200-150721800	Strong transcription	Liver	Liver
2	chr6:150719200-150720600	Strong transcription	Fetal Intestine Small	intestine
3	chr6:150719600-150723800	Weak transcription	Fetal Heart	heart
4	chr6:150720600-150723000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:150721800-150729800	Weak transcription	Liver	Liver
6	chr6:150722400-150724400	Weak transcription	Aorta	Aorta
7	chr6:150723400-150723800	Enhancers	K562	blood
8	chr6:150723800-150725400	Enhancers	Fetal Heart	heart
9	chr6:150724000-150724400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:150724000-150725400	Enhancers	Adipose Nuclei	Adipose
11	chr6:150724000-150725400	Enhancers	Fetal Lung	lung
12	chr6:150724000-150725400	Enhancers	Fetal Stomach	stomach
13	chr6:150724000-150725600	Enhancers	Osteobl	bone
14	chr6:150724200-150724400	Enhancers	Stomach Mucosa	stomach
15	chr6:150724200-150725400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:150724200-150725400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:150724200-150725600	Enhancers	Hela-S3	cervix
18	chr6:150724200-150725600	Enhancers	NH-A	brain
19	chr6:150724400-150724600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:150724400-150724800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:150724400-150724800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:150724400-150724800	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:150724400-150724800	Enhancers	Fetal Thymus	thymus
24	chr6:150724400-150724800	Enhancers	Left Ventricle	heart
25	chr6:150724400-150724800	Enhancers	Lung	lung
26	chr6:150724400-150724800	Enhancers	Right Atrium	heart
27	chr6:150724400-150724800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:150724400-150724800	Flanking Active TSS	Stomach Mucosa	stomach
29	chr6:150724400-150725000	Enhancers	Aorta	Aorta
30	chr6:150724400-150725000	Enhancers	HMEC	breast
31	chr6:150724400-150725400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:150724400-150725400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:150724400-150725400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:150724400-150725400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:150724400-150725400	Enhancers	Esophagus	oesophagus
36	chr6:150724400-150725400	Enhancers	Fetal Muscle Leg	muscle
37	chr6:150724400-150725400	Enhancers	Right Ventricle	heart
38	chr6:150724400-150725400	Bivalent Enhancer	HUVEC	blood vessel
39	chr6:150724400-150725400	Enhancers	NHEK	skin
40	chr6:150724400-150725600	Enhancers	Fetal Kidney	kidney
41	chr6:150724600-150725000	Enhancers	Colon Smooth Muscle	Colon
42	chr6:150724600-150725000	Enhancers	Ovary	ovary
43	chr6:150724600-150725000	Enhancers	Psoas Muscle	Psoas
44	chr6:150724600-150725400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:150724600-150725400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:150724600-150725400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:150724600-150725400	Enhancers	Gastric	stomach
48	chr6:150724600-150725400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:150724800-150725000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:150724800-150725200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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