Variant report

Variant	nsv159209
Chromosome Location	chr1:169607718-169613389
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	chr1:169609016..169611168-chr1:169613223..169616502,3	K562	blood:
2	chr1:169609016..169611168-chr1:169613223..169616502,3	K562	blood:

Extended variants
information (count: 196 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554878641	chr1:169607745-169607746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80270964	chr1:169607749-169607750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145730963	chr1:169607794-169607795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368644706	chr1:169607850-169607851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564978226	chr1:169607866-169607867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148897105	chr1:169607896-169607897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187986035	chr1:169607916-169607917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535986866	chr1:169607938-169607939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559024188	chr1:169607987-169607988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114933619	chr1:169608024-169608025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547798550	chr1:169608034-169608035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9659257	chr1:169608068-169608069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375562685	chr1:169608074-169608075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74646590	chr1:169608078-169608079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570997185	chr1:169608106-169608107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535231120	chr1:169608150-169608151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191338885	chr1:169608201-169608202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183875339	chr1:169608206-169608207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535817298	chr1:169608243-169608244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557428367	chr1:169608265-169608266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188658965	chr1:169608306-169608307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543390563	chr1:169608321-169608322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558821892	chr1:169608425-169608426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181488778	chr1:169608430-169608431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143620872	chr1:169608442-169608443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558988080	chr1:169608449-169608450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75743141	chr1:169608608-169608609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541402491	chr1:169608609-169608610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371620557	chr1:169608676-169608677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563184333	chr1:169608680-169608681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531227734	chr1:169608693-169608694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558173559	chr1:169608755-169608756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578086053	chr1:169608791-169608792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552555874	chr1:169608798-169608799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77545736	chr1:169608799-169608800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142190425	chr1:169608874-169608875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1569476	chr1:169608917-169608918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
38	rs568554389	chr1:169608944-169608945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563359709	chr1:169608960-169608961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535984720	chr1:169608968-169608969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145821416	chr1:169608985-169608986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569113903	chr1:169609037-169609038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573382157	chr1:169609192-169609193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539821614	chr1:169609206-169609207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558541550	chr1:169609221-169609222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577082025	chr1:169609252-169609253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534492327	chr1:169609291-169609292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369030602	chr1:169609308-169609309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552777147	chr1:169609313-169609314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187134246	chr1:169609329-169609330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169605200-169617000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:169608600-169609000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr1:169608600-169609200	Enhancers	Dnd41	blood
4	chr1:169608800-169609000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:169608800-169609200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:169609000-169616400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:169609000-169616800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:169609200-169610600	Weak transcription	Dnd41	blood
9	chr1:169609800-169611800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:169610000-169611600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:169610000-169612000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:169610600-169610800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:169610600-169611600	Enhancers	Dnd41	blood
14	chr1:169610600-169611800	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:169610800-169611600	Enhancers	Primary T cells from cord blood	blood
16	chr1:169611000-169611400	Enhancers	Primary B cells from cord blood	blood
17	chr1:169611000-169611400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:169611000-169611600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:169611200-169611600	Enhancers	Fetal Thymus	thymus
20	chr1:169611600-169616600	Weak transcription	Primary T cells from cord blood	blood
21	chr1:169611600-169616800	Weak transcription	Dnd41	blood
22	chr1:169611800-169618000	Weak transcription	Primary B cells from peripheral blood	blood

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