Variant report

Variant	nsv1001280
Chromosome Location	chr1:190368571-190408174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190405958..190408213-chr1:190432999..190435234,2	K562	blood:
2	chr1:190378593..190380350-chr1:190390238..190392382,2	K562	blood:
3	chr1:190378593..190380350-chr1:190390238..190392382,2	K562	blood:
4	chr1:190342576..190343250-chr1:190405276..190406393,5	MCF-7	breast:

Extended variants
information (count: 1428 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1428 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557850591	chr1:190368597-190368598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577108858	chr1:190368612-190368613	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs138640666	chr1:190368724-190368725	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs74130735	chr1:190368737-190368738	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576261851	chr1:190368748-190368749	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541960353	chr1:190368772-190368773	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188743641	chr1:190368777-190368778	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs146265460	chr1:190368805-190368806	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181121576	chr1:190368845-190368846	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs74130736	chr1:190368916-190368917	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185306599	chr1:190369022-190369023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550163341	chr1:190369136-190369137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190182882	chr1:190369137-190369138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529414689	chr1:190369161-190369162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552825999	chr1:190369168-190369169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549087414	chr1:190369192-190369193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181819171	chr1:190369201-190369202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557022032	chr1:190369204-190369205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565864971	chr1:190369263-190369264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534797894	chr1:190369305-190369306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35499253	chr1:190369333-190369334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142506536	chr1:190369353-190369354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77918772	chr1:190369365-190369366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571503257	chr1:190369393-190369394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542056858	chr1:190369410-190369411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150499440	chr1:190369461-190369462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556461106	chr1:190369470-190369471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17377331	chr1:190369508-190369509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542070983	chr1:190369546-190369547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200280064	chr1:190369548-190369549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187362547	chr1:190369559-190369560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111927446	chr1:190369625-190369626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540768166	chr1:190369632-190369633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564113939	chr1:190369644-190369645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74130738	chr1:190369662-190369663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564436661	chr1:190369675-190369676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10920712	chr1:190369728-190369729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs563611471	chr1:190369825-190369826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529522538	chr1:190369830-190369831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541639587	chr1:190369919-190369920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549205767	chr1:190369930-190369931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10920713	chr1:190369969-190369970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149686057	chr1:190370036-190370037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551543071	chr1:190370056-190370057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368327853	chr1:190370060-190370061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571628268	chr1:190370095-190370096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537021473	chr1:190370125-190370126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557367667	chr1:190370144-190370145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368952410	chr1:190370189-190370190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535740744	chr1:190370213-190370214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190365000-190380200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:190368200-190369400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:190368600-190369000	Active TSS	GM12878-XiMat	blood
4	chr1:190379000-190379400	Enhancers	Fetal Intestine Large	intestine
5	chr1:190379400-190420000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:190380200-190380400	Enhancers	Fetal Intestine Small	intestine
7	chr1:190383600-190384000	Enhancers	Fetal Heart	heart
8	chr1:190384000-190385400	Weak transcription	Fetal Heart	heart
9	chr1:190385400-190386200	Enhancers	Fetal Heart	heart
10	chr1:190386200-190388200	Weak transcription	Fetal Heart	heart
11	chr1:190397600-190413000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:190407800-190408200	Enhancers	Fetal Heart	heart

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