Variant report

Variant	nsv947329
Chromosome Location	chr1:158944939-158948344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:158934253..158936901-chr1:158944231..158946210,2	K562	blood:
2	chr1:158944012..158946277-chr1:158956964..158958723,2	K562	blood:
3	chr1:158647173..158649566-chr1:158944147..158946933,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567915878	chr1:158945001-158945002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199582580	chr1:158945024-158945025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10579060	chr1:158945026-158945027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374414091	chr1:158945027-158945028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570936075	chr1:158945029-158945030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535322723	chr1:158945064-158945065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553663502	chr1:158945067-158945068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1631448	chr1:158945087-158945088	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549667907	chr1:158945088-158945089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539444670	chr1:158945109-158945110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76149485	chr1:158945165-158945166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576129674	chr1:158945193-158945194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553239622	chr1:158945265-158945266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1633297	chr1:158945307-158945308	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567066458	chr1:158945313-158945314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183735347	chr1:158945323-158945324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188401122	chr1:158945348-158945349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1772443	chr1:158945375-158945376	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181277055	chr1:158945440-158945441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557858127	chr1:158945445-158945446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527664956	chr1:158945454-158945455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546219874	chr1:158945470-158945471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564420712	chr1:158945485-158945486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34652350	chr1:158945510-158945511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531783646	chr1:158945640-158945641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11578363	chr1:158945674-158945675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567878198	chr1:158945686-158945687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1772442	chr1:158945688-158945689	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs151216672	chr1:158945694-158945695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371094196	chr1:158945700-158945701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16841398	chr1:158945708-158945709	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539055554	chr1:158945739-158945740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140405430	chr1:158945776-158945777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569554623	chr1:158945786-158945787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1772441	chr1:158945787-158945788	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555518779	chr1:158945894-158945895	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575058939	chr1:158945931-158945932	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149922576	chr1:158946004-158946005	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147617917	chr1:158946051-158946052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572745554	chr1:158946052-158946053	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184577273	chr1:158946058-158946059	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564463032	chr1:158946073-158946074	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1633298	chr1:158946086-158946087	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200314994	chr1:158946142-158946143	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386635959	chr1:158946145-158946146	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561871271	chr1:158946146-158946147	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1772439	chr1:158946147-158946148	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547232837	chr1:158946165-158946166	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565836726	chr1:158946167-158946168	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141603005	chr1:158946192-158946193	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158920600-158950600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:158923000-158949600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:158933400-158949400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:158939600-158946000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:158940600-158953000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:158941200-158952200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:158941400-158948400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:158942400-158948600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:158942800-158947400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:158943000-158949200	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:158943600-158945400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:158944000-158947400	Strong transcription	Primary T cells from cord blood	blood
13	chr1:158944400-158945800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:158945400-158946400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:158945800-158946200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:158945800-158946400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:158945800-158946400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:158945800-158947800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:158946000-158946200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:158946000-158946400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:158946000-158946400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:158946000-158947800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:158946200-158954200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:158946400-158947400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:158946400-158949600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:158946800-158947800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:158947400-158947600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:158947400-158948800	Weak transcription	Primary T cells from cord blood	blood
29	chr1:158947400-158948800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:158947600-158947800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:158947800-158948400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:158947800-158948600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:158947800-158948800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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