Variant report

Variant	nsv1001724
Chromosome Location	chr1:189147056-189181155
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189116028..189120237-chr1:189160506..189163276,3	K562	blood:
2	chr1:189145733..189147839-chr1:189155751..189158462,2	K562	blood:
3	chr1:189148880..189151522-chr1:189151849..189154466,3	K562	blood:
4	chr1:189166300..189168058-chr1:189173903..189175630,2	MCF-7	breast:
5	chr1:189118692..189120237-chr1:189161776..189163535,2	K562	blood:
6	chr1:189148880..189151522-chr1:189151849..189154466,3	K562	blood:
7	chr1:189170367..189172924-chr1:189189578..189192081,2	K562	blood:
8	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
9	chr1:189167872..189169675-chr1:189171676..189174219,2	K562	blood:
10	chr1:189166300..189168058-chr1:189173903..189175630,2	MCF-7	breast:
11	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
12	chr1:189167872..189169675-chr1:189171676..189174219,2	K562	blood:
13	chr1:189145733..189147839-chr1:189155751..189158462,2	K562	blood:

No data

Extended variants
information (count: 183 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs74961538	chr1:189152020-189152021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535104040	chr1:189152049-189152050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558309271	chr1:189152078-189152079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367905853	chr1:189152103-189152104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16830151	chr1:189152141-189152142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376602525	chr1:189152197-189152198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546018507	chr1:189152207-189152208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556976062	chr1:189152210-189152211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546185439	chr1:189152256-189152257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375437324	chr1:189152299-189152300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10158912	chr1:189152316-189152317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562599945	chr1:189152318-189152319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4845303	chr1:189152343-189152344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145189153	chr1:189152348-189152349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113599534	chr1:189152363-189152364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186360828	chr1:189152368-189152369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191840878	chr1:189152378-189152379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146864956	chr1:189152381-189152382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34291454	chr1:189154012-189154013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148119455	chr1:189154033-189154034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72733824	chr1:189154035-189154036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199780784	chr1:189154067-189154068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192348950	chr1:189154071-189154072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563284795	chr1:189154094-189154095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141907418	chr1:189154096-189154097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543251380	chr1:189154105-189154106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184681905	chr1:189154113-189154114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528816447	chr1:189154124-189154125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150214879	chr1:189154144-189154145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567603541	chr1:189154225-189154226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531627869	chr1:189154233-189154234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571601304	chr1:189154252-189154253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550815021	chr1:189154325-189154326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530838612	chr1:189154326-189154327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551052485	chr1:189154378-189154379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567695577	chr1:189154387-189154388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189774620	chr1:189154423-189154424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569040174	chr1:189154494-189154495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111903172	chr1:189154530-189154531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143624605	chr1:189154555-189154556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80272375	chr1:189154572-189154573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557522815	chr1:189154614-189154615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557655500	chr1:189154624-189154625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116501955	chr1:189154653-189154654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536686880	chr1:189154705-189154706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193086723	chr1:189154729-189154730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369099710	chr1:189154753-189154754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2494095	chr1:189154806-189154807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573656730	chr1:189154812-189154813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543214382	chr1:189154851-189154852	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189152000-189152400	Enhancers	Fetal Heart	heart
2	chr1:189154000-189154600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:189154000-189154800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:189154000-189155000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:189154200-189154800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:189154200-189155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:189154400-189155000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:189165000-189165200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:189165600-189167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:189174200-189174800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:189175000-189175400	Enhancers	A549	lung

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