Variant report

Variant	nsv524740
Chromosome Location	chr1:211143108-211155614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 512 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12082952	chr1:211143108-211143109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544667987	chr1:211143150-211143151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577515798	chr1:211143181-211143182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528042705	chr1:211143213-211143214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78524726	chr1:211143219-211143220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547341705	chr1:211143225-211143226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571938680	chr1:211143263-211143264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539272874	chr1:211143265-211143266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550875346	chr1:211143289-211143290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147233475	chr1:211143298-211143299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564545177	chr1:211143299-211143300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544870383	chr1:211143300-211143301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536341247	chr1:211143339-211143340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527336968	chr1:211143380-211143381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540752208	chr1:211143406-211143407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555006844	chr1:211143435-211143436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561114791	chr1:211143444-211143445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200635420	chr1:211143488-211143489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572905964	chr1:211143517-211143518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370162783	chr1:211143551-211143552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533897893	chr1:211143592-211143593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552883929	chr1:211143613-211143614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553581755	chr1:211143627-211143628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550380195	chr1:211143630-211143631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190859850	chr1:211143631-211143632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373623779	chr1:211143641-211143642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113172155	chr1:211143653-211143654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545234071	chr1:211143686-211143687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183479427	chr1:211143689-211143690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564553335	chr1:211143700-211143701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542358068	chr1:211143720-211143721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561008345	chr1:211143778-211143779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368732755	chr1:211143783-211143784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528111772	chr1:211143805-211143806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187537123	chr1:211143806-211143807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570251039	chr1:211143867-211143868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532854050	chr1:211143878-211143879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371053037	chr1:211143924-211143925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113493341	chr1:211143927-211143928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192787949	chr1:211143929-211143930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530267909	chr1:211143971-211143972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35903667	chr1:211144038-211144039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548416700	chr1:211144061-211144062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566609989	chr1:211144114-211144115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533957817	chr1:211144118-211144119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558525357	chr1:211144249-211144250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571246619	chr1:211144289-211144290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538562905	chr1:211144295-211144296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552248878	chr1:211144313-211144314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368190976	chr1:211144322-211144323	Weak transcription	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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211123000-211152000	Weak transcription	HSMM	muscle
2	chr1:211151800-211152600	Enhancers	A549	lung
3	chr1:211152000-211152400	Enhancers	HepG2	liver
4	chr1:211152000-211152400	Strong transcription	HSMM	muscle
5	chr1:211152000-211152800	Enhancers	HSMMtube	muscle
6	chr1:211152200-211152600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:211152200-211152600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:211152400-211153200	Weak transcription	HSMM	muscle
9	chr1:211152400-211154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:211152600-211169400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:211152800-211183400	Weak transcription	HSMMtube	muscle
12	chr1:211153200-211154200	Strong transcription	HSMM	muscle
13	chr1:211154200-211155400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:211154200-211155400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:211154200-211161800	Weak transcription	HSMM	muscle
16	chr1:211154400-211154600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:211154400-211154600	Enhancers	Osteobl	bone
18	chr1:211154400-211155400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:211155200-211155400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:211155200-211155400	Enhancers	Osteobl	bone
21	chr1:211155400-211161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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