Variant report

Variant	esv2561272
Chromosome Location	chr1:210294578-210296244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555752754	chr1:210294602-210294603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144833902	chr1:210294627-210294628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186329350	chr1:210294635-210294636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562756211	chr1:210294662-210294663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530479917	chr1:210294664-210294665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560344668	chr1:210294698-210294699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147521158	chr1:210294794-210294795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548669588	chr1:210294797-210294798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191083813	chr1:210294862-210294863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182110473	chr1:210294865-210294866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574172278	chr1:210294866-210294867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531452715	chr1:210294867-210294868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377508613	chr1:210294878-210294879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371013425	chr1:210294906-210294907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373777536	chr1:210294910-210294911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544746719	chr1:210294930-210294931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537473233	chr1:210294935-210294936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566295827	chr1:210294936-210294937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539663242	chr1:210294943-210294944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139357594	chr1:210294945-210294946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187761064	chr1:210294955-210294956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370083321	chr1:210294964-210294965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191374122	chr1:210294990-210294991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555840867	chr1:210294996-210294997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574081580	chr1:210294999-210295000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183133006	chr1:210295000-210295001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553178714	chr1:210295005-210295006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562993989	chr1:210295008-210295009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533332119	chr1:210295011-210295012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374109092	chr1:210295012-210295013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575969802	chr1:210295059-210295060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545430516	chr1:210295071-210295072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561373898	chr1:210295077-210295078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560579131	chr1:210295094-210295095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540986366	chr1:210295100-210295101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188566638	chr1:210295108-210295109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532998530	chr1:210295115-210295116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528037699	chr1:210295118-210295119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551692760	chr1:210295126-210295127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398053773	chr1:210295151-210295152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570254033	chr1:210295152-210295153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548451653	chr1:210295154-210295155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367929625	chr1:210295189-210295190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372450939	chr1:210295206-210295207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531281644	chr1:210295217-210295218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549678799	chr1:210295219-210295220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567699843	chr1:210295224-210295225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191967333	chr1:210295246-210295247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181615795	chr1:210295383-210295384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571656380	chr1:210295385-210295386	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
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210283000-210298000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210291200-210297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:210291600-210295800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:210291800-210295800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:210291800-210297200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:210291800-210297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:210295600-210296000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:210295600-210298600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:210295800-210296200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:210295800-210298000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:210296200-210299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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