Variant report

Variant	esv3405069
Chromosome Location	chr1:216952129-216953527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12402894	chr1:216952149-216952150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557044626	chr1:216952162-216952163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573672376	chr1:216952181-216952182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536390325	chr1:216952189-216952190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145852035	chr1:216952209-216952210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368613446	chr1:216952215-216952216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572821089	chr1:216952239-216952240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534443545	chr1:216952241-216952242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116047695	chr1:216952388-216952389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370213385	chr1:216952406-216952407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187235779	chr1:216952427-216952428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12729532	chr1:216952438-216952439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80193354	chr1:216952459-216952460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199956230	chr1:216952461-216952462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200694503	chr1:216952489-216952490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375511621	chr1:216952546-216952547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368583763	chr1:216952558-216952559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371964086	chr1:216952567-216952568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375101572	chr1:216952593-216952594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369457390	chr1:216952619-216952620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372747945	chr1:216952626-216952627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376087105	chr1:216952640-216952641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540316388	chr1:216952648-216952649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552779319	chr1:216952689-216952690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57169871	chr1:216952764-216952765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181606475	chr1:216952770-216952771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56386076	chr1:216952779-216952780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369122766	chr1:216952785-216952786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59803734	chr1:216952795-216952796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12094864	chr1:216952802-216952803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373176014	chr1:216952807-216952808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377740478	chr1:216952811-216952812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4991966	chr1:216952812-216952813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4991967	chr1:216952821-216952822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371175318	chr1:216952827-216952828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374176018	chr1:216952828-216952829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185597275	chr1:216952833-216952834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368551045	chr1:216952836-216952837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371045835	chr1:216952839-216952840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375222815	chr1:216952840-216952841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12090049	chr1:216952843-216952844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55962713	chr1:216952849-216952850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544945270	chr1:216952855-216952856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374154355	chr1:216952859-216952860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376660638	chr1:216952860-216952861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368132353	chr1:216952870-216952871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371639227	chr1:216952875-216952876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371167627	chr1:216952887-216952888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374131822	chr1:216952894-216952895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367939724	chr1:216952899-216952900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216897400-216958600	Weak transcription	Pancreas	Pancrea
2	chr1:216939800-216958600	Weak transcription	Psoas Muscle	Psoas
3	chr1:216950400-216953000	Weak transcription	Fetal Heart	heart
4	chr1:216950800-216953000	Weak transcription	Fetal Lung	lung
5	chr1:216952000-216952600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:216952000-216958600	Weak transcription	Aorta	Aorta
7	chr1:216953000-216953200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:216953000-216953400	Enhancers	Fetal Heart	heart
9	chr1:216953000-216954200	Enhancers	Fetal Lung	lung
10	chr1:216953200-216954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:216953400-216953600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:216953400-216958600	Weak transcription	Fetal Heart	heart

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