Variant report

Variant	nsv1027965
Chromosome Location	chr6:165020269-165085048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:165007452..165009387-chr6:165042540..165044932,2	K562	blood:
2	chr6:165029398..165031412-chr6:165033183..165034759,2	K562	blood:
3	chr6:164768274..164768906-chr6:165033273..165034147,2	MCF-7	breast:
4	chr6:165029398..165031412-chr6:165033183..165034759,2	K562	blood:
5	chr6:165082238..165084641-chr6:165089609..165091881,2	K562	blood:
6	chr6:165050032..165051589-chr6:165053797..165056474,2	K562	blood:
7	chr6:165050032..165051589-chr6:165053797..165056474,2	K562	blood:

No data

Extended variants
information (count: 736 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6934387	chr6:165020269-165020270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186298095	chr6:165020290-165020291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200710769	chr6:165020308-165020309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544997387	chr6:165020327-165020328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565152202	chr6:165020370-165020371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530700362	chr6:165020394-165020395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545709085	chr6:165020412-165020413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550778268	chr6:165020426-165020427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560744794	chr6:165020463-165020464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201766873	chr6:165020476-165020477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142756282	chr6:165020477-165020478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140206583	chr6:165020478-165020479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71546960	chr6:165020479-165020480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199855693	chr6:165020481-165020482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531537399	chr6:165020514-165020515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529777626	chr6:165020521-165020522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546247079	chr6:165020544-165020545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150002297	chr6:165020569-165020570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576711212	chr6:165020576-165020577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190317507	chr6:165020582-165020583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571939672	chr6:165020590-165020591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373853177	chr6:165029041-165029042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180781641	chr6:165029051-165029052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183724404	chr6:165029058-165029059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188234835	chr6:165029081-165029082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534940366	chr6:165029142-165029143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182246115	chr6:165029148-165029149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562459556	chr6:165029160-165029161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75820349	chr6:165029168-165029169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187209241	chr6:165029178-165029179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191631982	chr6:165029249-165029250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530198213	chr6:165029262-165029263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181891449	chr6:165029271-165029272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139474784	chr6:165029311-165029312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78135794	chr6:165029319-165029320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377472650	chr6:165029346-165029347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539116343	chr6:165029381-165029382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144192996	chr6:165029393-165029394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9365733	chr6:165029398-165029399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568870702	chr6:165029431-165029432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557172006	chr6:165029449-165029450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146562093	chr6:165029497-165029498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367973238	chr6:165029575-165029576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554413224	chr6:165029604-165029605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62440969	chr6:165029621-165029622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533776517	chr6:165029681-165029682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553929300	chr6:165029750-165029751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542642357	chr6:165029751-165029752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576908401	chr6:165029763-165029764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80042940	chr6:165029801-165029802	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165017000-165020600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:165029000-165029400	Enhancers	Brain Germinal Matrix	brain
3	chr6:165029400-165029800	Weak transcription	Brain Germinal Matrix	brain
4	chr6:165029800-165030600	Enhancers	Brain Germinal Matrix	brain
5	chr6:165031000-165031800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:165033000-165033200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:165033200-165033800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:165033400-165034600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:165033800-165034000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:165033800-165039000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:165039000-165039200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:165039800-165040200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:165039800-165041200	Enhancers	Brain Substantia Nigra	brain
14	chr6:165040000-165040800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:165040000-165040800	Enhancers	Brain Hippocampus Middle	brain
16	chr6:165040800-165043000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:165043000-165043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:165050800-165051000	Enhancers	Brain Anterior Caudate	brain
19	chr6:165051000-165051400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:165051000-165051400	Active TSS	Brain Anterior Caudate	brain
21	chr6:165051000-165051400	Enhancers	Fetal Heart	heart
22	chr6:165051200-165051400	Enhancers	Pancreas	Pancrea
23	chr6:165051400-165052400	Weak transcription	Pancreas	Pancrea
24	chr6:165052400-165052600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:165052400-165052600	Enhancers	Pancreas	Pancrea
26	chr6:165061400-165063000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:165061800-165062000	Enhancers	Brain Hippocampus Middle	brain
28	chr6:165061800-165062400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:165061800-165062400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:165061800-165062400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:165061800-165062600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:165062000-165062200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:165062000-165062200	Enhancers	Brain Substantia Nigra	brain
34	chr6:165062000-165062400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:165062000-165062400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:165062000-165062400	Enhancers	Adipose Nuclei	Adipose
37	chr6:165062000-165062400	Enhancers	Brain Angular Gyrus	brain
38	chr6:165062000-165062400	Active TSS	Brain Anterior Caudate	brain
39	chr6:165062000-165062400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:165062000-165062600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:165062000-165062600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:165062000-165062600	Enhancers	Brain Germinal Matrix	brain
43	chr6:165062000-165062600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr6:165062200-165062400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr6:165062400-165062600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:165066000-165066400	Enhancers	Aorta	Aorta
47	chr6:165072400-165073000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:165080400-165081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:165080600-165081200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:165081800-165083000	Enhancers	Fetal Brain Male	brain

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