Variant report

Variant	nsv970139
Chromosome Location	chr6:70412763-70416038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554417864	chr6:70412787-70412788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143664395	chr6:70412857-70412858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550620504	chr6:70412871-70412872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566126429	chr6:70412891-70412892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570327806	chr6:70412913-70412914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371856071	chr6:70412933-70412934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183678517	chr6:70412937-70412938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552733063	chr6:70412959-70412960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566693651	chr6:70413016-70413017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535735081	chr6:70413059-70413060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3799109	chr6:70413118-70413119	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575134523	chr6:70413153-70413154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147196750	chr6:70413207-70413208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368917285	chr6:70413215-70413216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557855209	chr6:70413287-70413288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs960144	chr6:70413328-70413329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552369966	chr6:70413348-70413349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530645065	chr6:70413349-70413350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34034485	chr6:70413362-70413363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546456272	chr6:70413370-70413371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189023565	chr6:70413381-70413382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528831496	chr6:70413398-70413399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73477462	chr6:70413426-70413427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141352867	chr6:70413432-70413433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192123888	chr6:70413470-70413471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530780661	chr6:70413514-70413515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183580874	chr6:70413601-70413602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187640323	chr6:70413637-70413638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533242570	chr6:70413644-70413645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17504196	chr6:70413657-70413658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs117836582	chr6:70413690-70413691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535392648	chr6:70413707-70413708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548461949	chr6:70413779-70413780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575119162	chr6:70413794-70413795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71559565	chr6:70413831-70413832	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568779636	chr6:70413867-70413868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537871885	chr6:70413880-70413881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560610753	chr6:70413950-70413951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78149587	chr6:70413953-70413954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577855622	chr6:70413955-70413956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533871985	chr6:70413972-70413973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553295455	chr6:70414093-70414094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150821909	chr6:70414235-70414236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534399495	chr6:70414250-70414251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542174260	chr6:70414255-70414256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9364050	chr6:70414263-70414264	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575516228	chr6:70414278-70414279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191672618	chr6:70414308-70414309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35448649	chr6:70414435-70414436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397886747	chr6:70414436-70414437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70378800-70416800	Weak transcription	Fetal Kidney	kidney
2	chr6:70378800-70430800	Weak transcription	Fetal Stomach	stomach
3	chr6:70378800-70430800	Weak transcription	Spleen	Spleen
4	chr6:70378800-70435200	Weak transcription	Psoas Muscle	Psoas
5	chr6:70379000-70428400	Weak transcription	Ovary	ovary
6	chr6:70379000-70435400	Weak transcription	Fetal Brain Male	brain
7	chr6:70379600-70431000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:70380400-70430600	Weak transcription	Fetal Intestine Small	intestine
9	chr6:70380600-70455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:70380800-70467800	Weak transcription	K562	blood
11	chr6:70382200-70435400	Weak transcription	Brain Angular Gyrus	brain
12	chr6:70382400-70430200	Weak transcription	Small Intestine	intestine
13	chr6:70383800-70431000	Weak transcription	Lung	lung
14	chr6:70384000-70415800	Weak transcription	Fetal Lung	lung
15	chr6:70384200-70428400	Weak transcription	Aorta	Aorta
16	chr6:70384200-70431000	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:70384600-70417400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:70385000-70421600	Weak transcription	Fetal Intestine Large	intestine
19	chr6:70387600-70415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:70388000-70423400	Weak transcription	Left Ventricle	heart
21	chr6:70397200-70415600	Weak transcription	Primary T cells from cord blood	blood
22	chr6:70397800-70439000	Weak transcription	Fetal Heart	heart
23	chr6:70398000-70423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:70400800-70430800	Weak transcription	Pancreas	Pancrea
25	chr6:70402000-70430800	Weak transcription	Esophagus	oesophagus
26	chr6:70402200-70435200	Weak transcription	Brain Anterior Caudate	brain
27	chr6:70402800-70430800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:70403000-70429800	Weak transcription	NHDF-Ad	bronchial
29	chr6:70403200-70415400	Weak transcription	HSMM	muscle
30	chr6:70403400-70432200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:70403800-70422800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:70404200-70447400	Weak transcription	Hela-S3	cervix
33	chr6:70404400-70420000	Weak transcription	NHLF	lung
34	chr6:70404600-70433800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:70405000-70432200	Weak transcription	Fetal Brain Female	brain
36	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:70405400-70434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:70405600-70427600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:70405600-70446400	Weak transcription	HepG2	liver
40	chr6:70406000-70430800	Weak transcription	Thymus	Thymus
41	chr6:70406000-70433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:70406200-70438400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:70406600-70431200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:70406600-70449400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:70406600-70457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:70408000-70422800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:70408000-70430200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:70408200-70415600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:70408200-70415600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:70408200-70416800	Weak transcription	Rectal Mucosa Donor 29	rectum

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