Variant report

Variant	nsv970309
Chromosome Location	chr6:164997159-165007880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:165007452..165009387-chr6:165042540..165044932,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535465862	chr6:164997159-164997160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542879783	chr6:164997168-164997169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538425903	chr6:164999406-164999407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9456975	chr6:164999410-164999411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9456976	chr6:164999415-164999416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138127365	chr6:164999427-164999428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563341133	chr6:164999478-164999479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369862762	chr6:164999489-164999490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554188134	chr6:164999532-164999533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183634635	chr6:164999628-164999629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117859202	chr6:164999705-164999706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114378186	chr6:164999708-164999709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370621284	chr6:164999709-164999710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558814807	chr6:164999725-164999726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573408034	chr6:164999754-164999755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112489289	chr6:164999808-164999809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2055259	chr6:164999816-164999817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2055260	chr6:164999896-164999897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149566394	chr6:164999898-164999899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561295605	chr6:164999900-164999901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75820437	chr6:164999907-164999908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546889743	chr6:164999913-164999914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566602213	chr6:164999920-164999921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538835237	chr6:164999935-164999936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192775183	chr6:164999966-164999967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147254181	chr6:165000020-165000021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139742122	chr6:165000024-165000025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554225177	chr6:165000075-165000076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76566256	chr6:165000104-165000105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9365730	chr6:165000123-165000124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182748583	chr6:165000133-165000134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573420530	chr6:165000184-165000185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115491822	chr6:165000203-165000204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565386140	chr6:165000244-165000245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186679982	chr6:165000251-165000252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145320423	chr6:165000293-165000294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541517907	chr6:165000337-165000338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530118583	chr6:165000343-165000344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs370981170	chr6:165000346-165000347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540221400	chr6:165000382-165000383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114509371	chr6:165000383-165000384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538527146	chr6:165001626-165001627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149872956	chr6:165001699-165001700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146438766	chr6:165001773-165001774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376608562	chr6:165001795-165001796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540406408	chr6:165001835-165001836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13215695	chr6:165001915-165001916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577188452	chr6:165001962-165001963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185523609	chr6:165002015-165002016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562454001	chr6:165002033-165002034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164997000-164997200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:164999400-165000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:165000200-165000400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:165001600-165003400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:165002200-165002800	ZNF genes & repeats	Brain Hippocampus Middle	brain
6	chr6:165002400-165002800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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