Variant report

Variant	nsv464127
Chromosome Location	chr6:165004614-165045334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:165029398..165031412-chr6:165033183..165034759,2	K562	blood:
2	chr6:164768274..164768906-chr6:165033273..165034147,2	MCF-7	breast:
3	chr6:165007452..165009387-chr6:165042540..165044932,2	K562	blood:
4	chr6:165007452..165009387-chr6:165042540..165044932,2	K562	blood:
5	chr6:165029398..165031412-chr6:165033183..165034759,2	K562	blood:

Extended variants
information (count: 568 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184587825	chr6:165016003-165016004	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2055261	chr6:165016007-165016008	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551996426	chr6:165016015-165016016	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144804248	chr6:165016081-165016082	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs534008394	chr6:165016090-165016091	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs188449835	chr6:165016093-165016094	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147943034	chr6:165016100-165016101	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373671848	chr6:165016108-165016109	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192279027	chr6:165016119-165016120	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141638225	chr6:165016150-165016151	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576206612	chr6:165016190-165016191	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535259622	chr6:165016204-165016205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs729034	chr6:165016255-165016256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184612722	chr6:165016287-165016288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541121097	chr6:165016329-165016330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536841259	chr6:165016367-165016368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564107376	chr6:165016401-165016402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577522157	chr6:165016402-165016403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371395162	chr6:165016440-165016441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs729035	chr6:165016455-165016456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563008100	chr6:165016496-165016497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143715330	chr6:165016560-165016561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533224418	chr6:165016567-165016568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548403263	chr6:165016576-165016577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561943489	chr6:165016577-165016578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576381800	chr6:165016578-165016579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113353267	chr6:165016640-165016641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535734485	chr6:165016644-165016645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151024446	chr6:165016692-165016693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140948622	chr6:165016712-165016713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554450421	chr6:165016716-165016717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570515093	chr6:165016726-165016727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190295373	chr6:165016777-165016778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150367373	chr6:165016787-165016788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376822427	chr6:165016792-165016793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2047282	chr6:165016833-165016834	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12664018	chr6:165016903-165016904	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192419494	chr6:165017017-165017018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184967566	chr6:165017018-165017019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188899306	chr6:165017034-165017035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557861107	chr6:165017078-165017079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2132414	chr6:165017092-165017093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555634569	chr6:165017115-165017116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562302381	chr6:165017127-165017128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543086279	chr6:165017166-165017167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181600593	chr6:165017171-165017172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138113300	chr6:165017393-165017394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141142936	chr6:165017444-165017445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561955622	chr6:165017465-165017466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186344677	chr6:165017468-165017469	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
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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165016000-165016200	ZNF genes & repeats	Pancreas	Pancrea
2	chr6:165016000-165016400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:165016400-165016800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:165016600-165017000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:165016800-165017000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:165016800-165017000	ZNF genes & repeats	Pancreas	Pancrea
7	chr6:165017000-165020600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:165029000-165029400	Enhancers	Brain Germinal Matrix	brain
9	chr6:165029400-165029800	Weak transcription	Brain Germinal Matrix	brain
10	chr6:165029800-165030600	Enhancers	Brain Germinal Matrix	brain
11	chr6:165031000-165031800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:165033000-165033200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:165033200-165033800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:165033400-165034600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:165033800-165034000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:165033800-165039000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:165039000-165039200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:165039800-165040200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:165039800-165041200	Enhancers	Brain Substantia Nigra	brain
20	chr6:165040000-165040800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:165040000-165040800	Enhancers	Brain Hippocampus Middle	brain
22	chr6:165040800-165043000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:165043000-165043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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