Variant report

Variant	esv3410725
Chromosome Location	chr1:210763929-210767627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149699442	chr1:210763998-210763999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11119545	chr1:210764020-210764021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145510264	chr1:210764043-210764044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74401051	chr1:210764087-210764088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184546532	chr1:210764090-210764091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555724211	chr1:210764136-210764137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573861470	chr1:210764163-210764164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541262088	chr1:210764166-210764167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553095490	chr1:210764167-210764168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577712144	chr1:210764188-210764189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545092261	chr1:210764198-210764199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76967105	chr1:210764242-210764243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12145420	chr1:210764295-210764296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190227912	chr1:210764319-210764320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561274592	chr1:210764353-210764354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546766855	chr1:210764407-210764408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566586130	chr1:210764426-210764427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546829214	chr1:210764492-210764493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571709644	chr1:210764536-210764537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144780978	chr1:210764631-210764632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182564034	chr1:210764639-210764640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78409123	chr1:210764677-210764678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185949228	chr1:210764733-210764734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536676164	chr1:210764756-210764757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555685185	chr1:210764768-210764769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374218172	chr1:210764774-210764775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112485840	chr1:210764790-210764791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61827360	chr1:210764798-210764799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147957412	chr1:210764803-210764804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535720406	chr1:210764806-210764807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191144049	chr1:210764833-210764834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377664369	chr1:210764842-210764843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76097441	chr1:210764856-210764857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555722274	chr1:210764879-210764880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557040999	chr1:210764909-210764910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181150008	chr1:210764967-210764968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574872255	chr1:210765022-210765023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10779539	chr1:210765060-210765061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561234038	chr1:210765110-210765111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573245554	chr1:210765146-210765147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141828191	chr1:210765149-210765150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565304320	chr1:210765185-210765186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532764711	chr1:210765228-210765229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550777360	chr1:210765237-210765238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78672758	chr1:210765238-210765239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530108265	chr1:210765250-210765251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12127035	chr1:210765265-210765266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537849675	chr1:210765279-210765280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566875475	chr1:210765338-210765339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185339406	chr1:210765398-210765399	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210756200-210771800	Weak transcription	Left Ventricle	heart
2	chr1:210761400-210771600	Weak transcription	Gastric	stomach
3	chr1:210761600-210770400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:210762400-210770400	Weak transcription	HSMM	muscle
5	chr1:210762800-210764200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:210763200-210764200	Enhancers	Brain Substantia Nigra	brain
7	chr1:210763200-210769600	Weak transcription	A549	lung
8	chr1:210763200-210770400	Weak transcription	Osteobl	bone
9	chr1:210763400-210765200	Weak transcription	Ovary	ovary
10	chr1:210763600-210770000	Weak transcription	HSMMtube	muscle
11	chr1:210763800-210770200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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