Variant report

Variant	nsv1001359
Chromosome Location	chr1:189124727-189219368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:189116028..189120237-chr1:189160506..189163276,3	K562	blood:
2	chr1:189170367..189172924-chr1:189189578..189192081,2	K562	blood:
3	chr1:189166300..189168058-chr1:189173903..189175630,2	MCF-7	breast:
4	chr1:189166300..189168058-chr1:189173903..189175630,2	MCF-7	breast:
5	chr1:189145733..189147839-chr1:189155751..189158462,2	K562	blood:
6	chr1:189148880..189151522-chr1:189151849..189154466,3	K562	blood:
7	chr1:189148880..189151522-chr1:189151849..189154466,3	K562	blood:
8	chr1:189129002..189131397-chr1:189134322..189136351,2	K562	blood:
9	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
10	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
11	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
12	chr1:189145733..189147839-chr1:189155751..189158462,2	K562	blood:
13	chr1:189167872..189169675-chr1:189171676..189174219,2	K562	blood:
14	chr1:189117897..189121261-chr1:189121594..189126238,14	K562	blood:
15	chr1:189129002..189131397-chr1:189134322..189136351,2	K562	blood:
16	chr1:189117472..189119445-chr1:189184383..189186495,2	K562	blood:
17	chr1:189117456..189122192-chr1:189126377..189132093,10	K562	blood:
18	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
19	chr1:189167872..189169675-chr1:189171676..189174219,2	K562	blood:
20	chr1:189170367..189172924-chr1:189189578..189192081,2	K562	blood:
21	chr1:189118692..189120237-chr1:189161776..189163535,2	K562	blood:
22	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:

No data

Extended variants
information (count: 310 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78094975	chr1:189127201-189127202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182751064	chr1:189127228-189127229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111260292	chr1:189127270-189127271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141803403	chr1:189127305-189127306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112522734	chr1:189127330-189127331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs150585110	chr1:189127337-189127338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561310795	chr1:189127339-189127340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs533494340	chr1:189127340-189127341	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs397976074	chr1:189127343-189127344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs56921617	chr1:189127344-189127345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543446001	chr1:189127353-189127354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34724176	chr1:189127397-189127398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563712228	chr1:189127412-189127413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529325062	chr1:189127414-189127415	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549476558	chr1:189127475-189127476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs528862651	chr1:189127491-189127492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527464730	chr1:189127496-189127497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547638606	chr1:189127522-189127523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112111463	chr1:189127557-189127558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548310344	chr1:189127560-189127561	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372925311	chr1:189127571-189127572	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs539784589	chr1:189127587-189127588	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116396312	chr1:189127593-189127594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139485247	chr1:189127594-189127595	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs74961538	chr1:189152020-189152021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535104040	chr1:189152049-189152050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558309271	chr1:189152078-189152079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367905853	chr1:189152103-189152104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16830151	chr1:189152141-189152142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376602525	chr1:189152197-189152198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546018507	chr1:189152207-189152208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556976062	chr1:189152210-189152211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546185439	chr1:189152256-189152257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375437324	chr1:189152299-189152300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10158912	chr1:189152316-189152317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562599945	chr1:189152318-189152319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4845303	chr1:189152343-189152344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145189153	chr1:189152348-189152349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113599534	chr1:189152363-189152364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186360828	chr1:189152368-189152369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191840878	chr1:189152378-189152379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146864956	chr1:189152381-189152382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34291454	chr1:189154012-189154013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148119455	chr1:189154033-189154034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72733824	chr1:189154035-189154036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199780784	chr1:189154067-189154068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192348950	chr1:189154071-189154072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563284795	chr1:189154094-189154095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141907418	chr1:189154096-189154097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543251380	chr1:189154105-189154106	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189127200-189127600	Active TSS	K562	blood
2	chr1:189152000-189152400	Enhancers	Fetal Heart	heart
3	chr1:189154000-189154600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:189154000-189154800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:189154000-189155000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:189154200-189154800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:189154200-189155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:189154400-189155000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:189165000-189165200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:189165600-189167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:189174200-189174800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:189175000-189175400	Enhancers	A549	lung
13	chr1:189181800-189182600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:189182000-189182800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:189194000-189194800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:189194600-189194800	ZNF genes & repeats	Gastric	stomach
17	chr1:189196000-189196400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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