Variant report

Variant	esv3376052
Chromosome Location	chr1:242457901-242459399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558311787	chr1:242457902-242457903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575065192	chr1:242457915-242457916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373084788	chr1:242457924-242457925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139207744	chr1:242457940-242457941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189670474	chr1:242457962-242457963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180700264	chr1:242457967-242457968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540263569	chr1:242457969-242457970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112267900	chr1:242457972-242457973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4658801	chr1:242457973-242457974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185086204	chr1:242458021-242458022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546447861	chr1:242458024-242458025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563091031	chr1:242458082-242458083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191310615	chr1:242458100-242458101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554271818	chr1:242458134-242458135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372990184	chr1:242458182-242458183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114066432	chr1:242458197-242458198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529736487	chr1:242458203-242458204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546264596	chr1:242458204-242458205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183062865	chr1:242458229-242458230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145249871	chr1:242458244-242458245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188600975	chr1:242458258-242458259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370962972	chr1:242458287-242458288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568717084	chr1:242458302-242458303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537600606	chr1:242458363-242458364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554688731	chr1:242458368-242458369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149154435	chr1:242458371-242458372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61845539	chr1:242458406-242458407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534231929	chr1:242458408-242458409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3863741	chr1:242458409-242458410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577140250	chr1:242458494-242458495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546529720	chr1:242458503-242458504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556848999	chr1:242458508-242458509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558570852	chr1:242458509-242458510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57840333	chr1:242458512-242458513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368341742	chr1:242458576-242458577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541519699	chr1:242458577-242458578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577026499	chr1:242458603-242458604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4079450	chr1:242458633-242458634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557365619	chr1:242458652-242458653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540297695	chr1:242458723-242458724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559905420	chr1:242458757-242458758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531938529	chr1:242458767-242458768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552053929	chr1:242458801-242458802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568806629	chr1:242458848-242458849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs207461348	chr1:242458872-242458873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1393310	chr1:242458892-242458893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147123793	chr1:242458935-242458936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138532374	chr1:242458982-242458983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3001685	chr1:242459002-242459003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534054446	chr1:242459018-242459019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242428000-242472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:242435400-242481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:242458200-242458800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:242458400-242458800	Enhancers	Ovary	ovary

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