Variant report

Variant	esv3403257
Chromosome Location	chr1:242556279-242558977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 256 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540162178	chr1:242556304-242556305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553645033	chr1:242556334-242556335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11576279	chr1:242556335-242556336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191124713	chr1:242556355-242556356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28658049	chr1:242556373-242556374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200930018	chr1:242556376-242556377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375654954	chr1:242556383-242556384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542273856	chr1:242556429-242556430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561974647	chr1:242556462-242556463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183424030	chr1:242556467-242556468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527684442	chr1:242556468-242556469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540646881	chr1:242556487-242556488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559335299	chr1:242556489-242556490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111951949	chr1:242556490-242556491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548149388	chr1:242556495-242556496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573903104	chr1:242556503-242556504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67005493	chr1:242556511-242556512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533622222	chr1:242556529-242556530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11576326	chr1:242556540-242556541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193012894	chr1:242556553-242556554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11576335	chr1:242556634-242556635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11587398	chr1:242556640-242556641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369162642	chr1:242556685-242556686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569887430	chr1:242556697-242556698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550130910	chr1:242556699-242556700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370290741	chr1:242556707-242556708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201087557	chr1:242556709-242556710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374674730	chr1:242556719-242556720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532854930	chr1:242556731-242556732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200013352	chr1:242556734-242556735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201332315	chr1:242556752-242556753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374455607	chr1:242556757-242556758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184357348	chr1:242556758-242556759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570199380	chr1:242556766-242556767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200332727	chr1:242556767-242556768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149199213	chr1:242556776-242556777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537581002	chr1:242556778-242556779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201012808	chr1:242556780-242556781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548248809	chr1:242556786-242556787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187603603	chr1:242556789-242556790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192587921	chr1:242556798-242556799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183547841	chr1:242556800-242556801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189588100	chr1:242556801-242556802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202121353	chr1:242556811-242556812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200515100	chr1:242556813-242556814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374063190	chr1:242556822-242556823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368109811	chr1:242556826-242556827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181271637	chr1:242556834-242556835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184698942	chr1:242556837-242556838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370840538	chr1:242556846-242556847	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
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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242547200-242575200	Weak transcription	HMEC	breast
2	chr1:242549800-242580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242556000-242565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:242556000-242565000	Weak transcription	NHEK	skin
5	chr1:242556000-242575200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:242556000-242586600	Weak transcription	Aorta	Aorta
7	chr1:242556200-242569200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:242556200-242570600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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