Variant report

Variant	nsv872768
Chromosome Location	chr1:190615637-190702130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190644661..190646873-chr1:190648441..190650340,2	K562	blood:
2	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:
3	chr1:190639004..190639517-chr14:55272079..55272672,2	MCF-7	breast:
4	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:
5	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:
6	chr1:190644661..190646873-chr1:190648441..190650340,2	K562	blood:
7	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs547213777	chr1:190628031-190628032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566993905	chr1:190628032-190628033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550731187	chr1:190628035-190628036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539306401	chr1:190628055-190628056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79278617	chr1:190628084-190628085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188942936	chr1:190628087-190628088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368723327	chr1:190628089-190628090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181384229	chr1:190628133-190628134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554194527	chr1:190628192-190628193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567809585	chr1:190628200-190628201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78011583	chr1:190628255-190628256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185820448	chr1:190628256-190628257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145290050	chr1:190628311-190628312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577200560	chr1:190628319-190628320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546049099	chr1:190628377-190628378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572690461	chr1:190636819-190636820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183991411	chr1:190636843-190636844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557767095	chr1:190636885-190636886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10651611	chr1:190636901-190636902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs68053973	chr1:190636902-190636903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377305616	chr1:190636908-190636909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369573196	chr1:190636909-190636910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577737638	chr1:190636952-190636953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543511307	chr1:190636959-190636960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563384684	chr1:190636964-190636965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368163708	chr1:190636983-190636984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543486538	chr1:190637012-190637013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560605163	chr1:190637032-190637033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542795456	chr1:190637041-190637042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528934975	chr1:190637088-190637089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1325224	chr1:190637116-190637117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369480405	chr1:190637121-190637122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528363827	chr1:190637138-190637139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551283045	chr1:190637152-190637153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564104585	chr1:190637153-190637154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533163712	chr1:190637177-190637178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577613425	chr1:190637193-190637194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549816876	chr1:190637284-190637285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188144501	chr1:190637306-190637307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375117789	chr1:190637312-190637313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192908811	chr1:190637349-190637350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535617216	chr1:190637350-190637351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185283713	chr1:190637380-190637381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566172088	chr1:190637396-190637397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149801619	chr1:190637403-190637404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535309421	chr1:190637417-190637418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541715392	chr1:190637474-190637475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558506361	chr1:190637481-190637482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10920767	chr1:190637500-190637501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559709599	chr1:190637508-190637509	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190628000-190628400	Enhancers	HUVEC	blood vessel
2	chr1:190636800-190637400	Enhancers	HepG2	liver
3	chr1:190637200-190637600	Enhancers	Hela-S3	cervix
4	chr1:190645800-190646400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:190647600-190649200	Enhancers	Hela-S3	cervix
6	chr1:190648600-190648800	Enhancers	HUVEC	blood vessel
7	chr1:190649200-190649600	Flanking Active TSS	Hela-S3	cervix
8	chr1:190649600-190649800	Enhancers	Hela-S3	cervix
9	chr1:190673200-190673600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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