Variant report

Variant	esv1008393
Chromosome Location	chr1:215426932-215429123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215425382..215427460-chr1:215429504..215431007,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77967581	chr1:215427232-215427233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531057584	chr1:215427269-215427270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544392171	chr1:215427281-215427282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202112766	chr1:215427317-215427318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561106617	chr1:215427323-215427324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530331201	chr1:215427364-215427365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528114874	chr1:215427803-215427804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200349489	chr1:215427824-215427825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551362484	chr1:215427843-215427844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564677937	chr1:215427865-215427866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530643230	chr1:215427887-215427888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550662856	chr1:215427918-215427919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376885323	chr1:215427930-215427931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547936330	chr1:215427974-215427975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12026669	chr1:215427993-215427994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531750735	chr1:215428015-215428016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373922085	chr1:215428057-215428058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61819705	chr1:215428060-215428061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7553135	chr1:215428071-215428072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577343586	chr1:215428075-215428076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12026702	chr1:215428083-215428084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541972616	chr1:215428094-215428095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184290647	chr1:215428160-215428161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537981419	chr1:215428213-215428214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534154299	chr1:215428270-215428271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554621347	chr1:215428327-215428328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574737572	chr1:215428393-215428394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188245813	chr1:215428405-215428406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373383006	chr1:215428452-215428453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560438105	chr1:215428475-215428476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147096739	chr1:215428530-215428531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376154103	chr1:215428548-215428549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546150415	chr1:215428561-215428562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564887500	chr1:215428566-215428567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530504841	chr1:215428581-215428582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550725577	chr1:215428647-215428648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546931776	chr1:215428662-215428663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560964904	chr1:215428663-215428664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376559405	chr1:215428669-215428670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181058981	chr1:215428702-215428703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200640015	chr1:215428716-215428717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201900636	chr1:215428720-215428721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569537234	chr1:215428724-215428725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564627446	chr1:215428725-215428726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369654897	chr1:215428757-215428758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552154832	chr1:215428791-215428792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568937238	chr1:215428809-215428810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574496583	chr1:215428865-215428866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373023300	chr1:215428871-215428872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566727889	chr1:215428897-215428898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215427200-215427400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:215427800-215429000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:215429000-215431800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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