Variant report

Variant	esv3433442
Chromosome Location	chr1:225255829-225257827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180855809	chr1:225255855-225255856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571932342	chr1:225255873-225255874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555843932	chr1:225255884-225255885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540411457	chr1:225255911-225255912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531658934	chr1:225255936-225255937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542650333	chr1:225256053-225256054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187018645	chr1:225256080-225256081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370675677	chr1:225256108-225256109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34547416	chr1:225256109-225256110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150829876	chr1:225256110-225256111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75388946	chr1:225256155-225256156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192253133	chr1:225256203-225256204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3128642	chr1:225256232-225256233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150184550	chr1:225256291-225256292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532373861	chr1:225256455-225256456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144328440	chr1:225256474-225256475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373495188	chr1:225256543-225256544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113610312	chr1:225256559-225256560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111694358	chr1:225256591-225256592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534568283	chr1:225256592-225256593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200780132	chr1:225256600-225256601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12564940	chr1:225256603-225256604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112371554	chr1:225256630-225256631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112085502	chr1:225256676-225256677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547697388	chr1:225256746-225256747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113456395	chr1:225256749-225256750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368326120	chr1:225256798-225256799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371747160	chr1:225256799-225256800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373897349	chr1:225256800-225256801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367721066	chr1:225256801-225256802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566017962	chr1:225256812-225256813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11588063	chr1:225256842-225256843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549311303	chr1:225256848-225256849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567561852	chr1:225256980-225256981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182327757	chr1:225256993-225256994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556260931	chr1:225257038-225257039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577794838	chr1:225257125-225257126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115625471	chr1:225257130-225257131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534892432	chr1:225257239-225257240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547076275	chr1:225257260-225257261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572747661	chr1:225257331-225257332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112789903	chr1:225257339-225257340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186887941	chr1:225257344-225257345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3102116	chr1:225257393-225257394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190784888	chr1:225257417-225257418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565004682	chr1:225257438-225257439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532335594	chr1:225257453-225257454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547658422	chr1:225257491-225257492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113766704	chr1:225257492-225257493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147116788	chr1:225257498-225257499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225255600-225260400	Weak transcription	Pancreas	Pancrea
2	chr1:225256400-225277400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:225257000-225257400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:225257000-225262600	Weak transcription	A549	lung
5	chr1:225257200-225257400	Enhancers	Hela-S3	cervix
6	chr1:225257400-225260600	Weak transcription	Hela-S3	cervix

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