Variant report

Variant	nsv945272
Chromosome Location	chr1:209406031-209407567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553784589	chr1:209406037-209406038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2800918	chr1:209406173-209406174	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545386319	chr1:209406191-209406192	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564075998	chr1:209406283-209406284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531484359	chr1:209406290-209406291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140568794	chr1:209406307-209406308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561552575	chr1:209406309-209406310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529034782	chr1:209406311-209406312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73085926	chr1:209406337-209406338	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370026346	chr1:209406349-209406350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs150476423	chr1:209406351-209406352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533204944	chr1:209406356-209406357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs555046721	chr1:209406368-209406369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191125732	chr1:209406372-209406373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570038334	chr1:209406443-209406444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138351339	chr1:209406524-209406525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537538210	chr1:209406527-209406528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182106183	chr1:209406634-209406635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577550211	chr1:209406654-209406655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185352799	chr1:209406668-209406669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553628146	chr1:209406677-209406678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190010712	chr1:209406711-209406712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75779272	chr1:209406716-209406717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182676670	chr1:209406725-209406726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149559729	chr1:209406734-209406735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543313500	chr1:209406743-209406744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540536859	chr1:209406812-209406813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562009659	chr1:209406821-209406822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77092473	chr1:209406825-209406826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145841667	chr1:209406826-209406827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200128125	chr1:209406850-209406851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4844466	chr1:209406904-209406905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114792026	chr1:209406953-209406954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72754460	chr1:209407000-209407001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537334556	chr1:209407029-209407030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559618907	chr1:209407035-209407036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533488345	chr1:209407046-209407047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542804769	chr1:209407121-209407122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188384307	chr1:209407147-209407148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563682313	chr1:209407166-209407167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192875676	chr1:209407180-209407181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183752502	chr1:209407203-209407204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567940181	chr1:209407286-209407287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188580892	chr1:209407390-209407391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146283155	chr1:209407400-209407401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192523628	chr1:209407416-209407417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571724402	chr1:209407418-209407419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184833332	chr1:209407424-209407425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557381474	chr1:209407445-209407446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188141072	chr1:209407481-209407482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	20406844	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209404400-209409000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209405000-209406400	ZNF genes & repeats	Spleen	Spleen
3	chr1:209405400-209407200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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