Variant report

Variant	nsv886358
Chromosome Location	chr6:93378969-93424897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:93385781..93388055-chr6:93400298..93402260,2	K562	blood:
2	chr6:93420272..93423132-chr6:93542767..93544331,2	K562	blood:
3	chr6:93385781..93388055-chr6:93400298..93402260,2	K562	blood:

Extended variants
information (count: 1173 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1459810	chr6:93378969-93378970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376372303	chr6:93378990-93378991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182857653	chr6:93378999-93379000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559500269	chr6:93379006-93379007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528684509	chr6:93379049-93379050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112156917	chr6:93379076-93379077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547809472	chr6:93379094-93379095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1459809	chr6:93379109-93379110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530954780	chr6:93379208-93379209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550942519	chr6:93379235-93379236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77697377	chr6:93379264-93379265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188184325	chr6:93379288-93379289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144914999	chr6:93379289-93379290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192464504	chr6:93379302-93379303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1342004	chr6:93379304-93379305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540952891	chr6:93379305-93379306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534822728	chr6:93379310-93379311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554660012	chr6:93379314-93379315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149111380	chr6:93379327-93379328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62418845	chr6:93379364-93379365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556901588	chr6:93379378-93379379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576792870	chr6:93379379-93379380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183759395	chr6:93379415-93379416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76634172	chr6:93379420-93379421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573052445	chr6:93379449-93379450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542014733	chr6:93379461-93379462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562183989	chr6:93379497-93379498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1342005	chr6:93379507-93379508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370741999	chr6:93379555-93379556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188087031	chr6:93379578-93379579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79905585	chr6:93379598-93379599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72928719	chr6:93379713-93379714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144546148	chr6:93379761-93379762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559690740	chr6:93379820-93379821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548322680	chr6:93379855-93379856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368937309	chr6:93379857-93379858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146274693	chr6:93379862-93379863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575611517	chr6:93379894-93379895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398002329	chr6:93379899-93379900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3077540	chr6:93379900-93379901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528444451	chr6:93379902-93379903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548399302	chr6:93379922-93379923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200053553	chr6:93379930-93379931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547358342	chr6:93379931-93379932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553347286	chr6:93379968-93379969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568197604	chr6:93379998-93379999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537128114	chr6:93380010-93380011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550426670	chr6:93380027-93380028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368399504	chr6:93380047-93380048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557505503	chr6:93380048-93380049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93376000-93379000	Enhancers	Fetal Heart	heart
2	chr6:93378000-93383400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:93379800-93381400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:93380000-93380600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr6:93380200-93382600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:93380600-93381200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:93381200-93382200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:93381400-93381800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr6:93381800-93383000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:93383400-93383600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:93383600-93384400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:93383600-93384600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:93384400-93385000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:93389200-93389800	Enhancers	Fetal Heart	heart
15	chr6:93389800-93392200	Weak transcription	Fetal Heart	heart
16	chr6:93392200-93394600	Enhancers	Fetal Heart	heart
17	chr6:93392600-93394400	Enhancers	Fetal Stomach	stomach
18	chr6:93393000-93393600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:93394600-93400200	Weak transcription	Fetal Heart	heart
20	chr6:93396400-93399000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:93396600-93397400	Enhancers	Primary B cells from cord blood	blood
22	chr6:93396800-93398200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:93398200-93398400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:93398400-93398600	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr6:93400200-93400800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:93400200-93401600	Enhancers	Fetal Heart	heart
27	chr6:93400400-93401200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:93400800-93401200	Enhancers	Left Ventricle	heart
29	chr6:93410200-93410400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:93410200-93411600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:93410400-93411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:93411400-93411800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:93414200-93414600	Enhancers	HSMM	muscle
34	chr6:93414600-93415800	Weak transcription	HSMM	muscle
35	chr6:93415800-93420400	Enhancers	HSMM	muscle
36	chr6:93416000-93419400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:93417000-93419400	Enhancers	HSMMtube	muscle
38	chr6:93420000-93421200	Enhancers	Fetal Heart	heart
39	chr6:93421200-93423000	Weak transcription	Fetal Heart	heart
40	chr6:93423000-93425000	Enhancers	Fetal Heart	heart

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