Variant report

Variant	nsv1024195
Chromosome Location	chr6:165045585-165089624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:165085847..165087840-chr6:165089357..165091527,2	K562	blood:
2	chr6:165050032..165051589-chr6:165053797..165056474,2	K562	blood:
3	chr6:165082238..165084641-chr6:165089609..165091881,2	K562	blood:
4	chr6:165085847..165087840-chr6:165089357..165091527,2	K562	blood:
5	chr6:165082238..165084641-chr6:165089609..165091881,2	K562	blood:
6	chr6:165050032..165051589-chr6:165053797..165056474,2	K562	blood:

Extended variants
information (count: 295 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561412287	chr6:165050827-165050828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190387967	chr6:165050903-165050904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555622445	chr6:165050945-165050946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62440984	chr6:165050982-165050983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs151287789	chr6:165050984-165050985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182193689	chr6:165051150-165051151	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536093573	chr6:165051231-165051232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532347850	chr6:165051255-165051256	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541544858	chr6:165051272-165051273	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566623602	chr6:165051276-165051277	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559651052	chr6:165051290-165051291	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186656939	chr6:165051334-165051335	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558649802	chr6:165051403-165051404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575246257	chr6:165051418-165051419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189879141	chr6:165051472-165051473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554565306	chr6:165051480-165051481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376644754	chr6:165051500-165051501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543314798	chr6:165051599-165051600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183648481	chr6:165051662-165051663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573411963	chr6:165051673-165051674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9355486	chr6:165051709-165051710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565417348	chr6:165051786-165051787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530868090	chr6:165051848-165051849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550562929	chr6:165051868-165051869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560916981	chr6:165051965-165051966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529950545	chr6:165052016-165052017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546521288	chr6:165052040-165052041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547669867	chr6:165052043-165052044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374523322	chr6:165052126-165052127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552079242	chr6:165052132-165052133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189244172	chr6:165052143-165052144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192879759	chr6:165052169-165052170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79840110	chr6:165052270-165052271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574452627	chr6:165052277-165052278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367812423	chr6:165052309-165052310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533755730	chr6:165052339-165052340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553675925	chr6:165052393-165052394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573449240	chr6:165052411-165052412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9355487	chr6:165052448-165052449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565286288	chr6:165052477-165052478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575351956	chr6:165052559-165052560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533218585	chr6:165052583-165052584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372147661	chr6:165061402-165061403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9459170	chr6:165061435-165061436	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs572231753	chr6:165061462-165061463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183100218	chr6:165061498-165061499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557471868	chr6:165061545-165061546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151047538	chr6:165061556-165061557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79383421	chr6:165061557-165061558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562919216	chr6:165061563-165061564	Enhancers	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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165050800-165051000	Enhancers	Brain Anterior Caudate	brain
2	chr6:165051000-165051400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:165051000-165051400	Active TSS	Brain Anterior Caudate	brain
4	chr6:165051000-165051400	Enhancers	Fetal Heart	heart
5	chr6:165051200-165051400	Enhancers	Pancreas	Pancrea
6	chr6:165051400-165052400	Weak transcription	Pancreas	Pancrea
7	chr6:165052400-165052600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:165052400-165052600	Enhancers	Pancreas	Pancrea
9	chr6:165061400-165063000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:165061800-165062000	Enhancers	Brain Hippocampus Middle	brain
11	chr6:165061800-165062400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:165061800-165062400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:165061800-165062400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:165061800-165062600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:165062000-165062200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:165062000-165062200	Enhancers	Brain Substantia Nigra	brain
17	chr6:165062000-165062400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:165062000-165062400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:165062000-165062400	Enhancers	Adipose Nuclei	Adipose
20	chr6:165062000-165062400	Enhancers	Brain Angular Gyrus	brain
21	chr6:165062000-165062400	Active TSS	Brain Anterior Caudate	brain
22	chr6:165062000-165062400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:165062000-165062600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:165062000-165062600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:165062000-165062600	Enhancers	Brain Germinal Matrix	brain
26	chr6:165062000-165062600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr6:165062200-165062400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr6:165062400-165062600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:165066000-165066400	Enhancers	Aorta	Aorta
30	chr6:165072400-165073000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:165080400-165081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:165080600-165081200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:165081800-165083000	Enhancers	Fetal Brain Male	brain
34	chr6:165083000-165083400	Weak transcription	Fetal Brain Male	brain
35	chr6:165083400-165083800	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links