Variant report

Variant	nsv5077
Chromosome Location	chr1:242441730-242486836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2056 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2056 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185037803	chr1:242441808-242441809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73140773	chr1:242441907-242441908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563647016	chr1:242441939-242441940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188197531	chr1:242441950-242441951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376645627	chr1:242441956-242441957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191605577	chr1:242441965-242441966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565854311	chr1:242441966-242441967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528265927	chr1:242441987-242441988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551917170	chr1:242442045-242442046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150877678	chr1:242442075-242442076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138541479	chr1:242442079-242442080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184134653	chr1:242442136-242442137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567984901	chr1:242442137-242442138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535680031	chr1:242442172-242442173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536524021	chr1:242442237-242442238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113101964	chr1:242442290-242442291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573117149	chr1:242442401-242442402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs316902	chr1:242442404-242442405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61486794	chr1:242442410-242442411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577313994	chr1:242442416-242442417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543445266	chr1:242442417-242442418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563119135	chr1:242442432-242442433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71650677	chr1:242442438-242442439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529213980	chr1:242442455-242442456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542577056	chr1:242442501-242442502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202051896	chr1:242442513-242442514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71571841	chr1:242442514-242442515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150973667	chr1:242442553-242442554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189403984	chr1:242442554-242442555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551601555	chr1:242442567-242442568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71650678	chr1:242442595-242442596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571812404	chr1:242442597-242442598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539355706	chr1:242442609-242442610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530896537	chr1:242442613-242442614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550982944	chr1:242442621-242442622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71650679	chr1:242442622-242442623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567574162	chr1:242442650-242442651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71650680	chr1:242442677-242442678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71650681	chr1:242442692-242442693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536614495	chr1:242442742-242442743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533068284	chr1:242442753-242442754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546898573	chr1:242442767-242442768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566776640	chr1:242442811-242442812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146750695	chr1:242442831-242442832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558715735	chr1:242442836-242442837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558870067	chr1:242442842-242442843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78771148	chr1:242442852-242442853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577700125	chr1:242442853-242442854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74560153	chr1:242442855-242442856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556987740	chr1:242442910-242442911	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:51 , 50 per page) page: 1 2

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	chr1:242444000-242444600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:242444000-242444600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:242447600-242448000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:242458200-242458800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:242458400-242458800	Enhancers	Ovary	ovary
8	chr1:242462600-242463400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:242466400-242466800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:242466800-242467200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:242467200-242467400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:242467400-242468200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:242468200-242468400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:242472000-242472600	Enhancers	HMEC	breast
15	chr1:242472200-242472600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:242472200-242472600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:242472200-242472800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:242472600-242477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:242472600-242477400	Weak transcription	HMEC	breast
20	chr1:242472600-242485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:242476000-242481400	Weak transcription	Aorta	Aorta
22	chr1:242477200-242477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:242477400-242477800	Enhancers	HMEC	breast
24	chr1:242477400-242478400	Enhancers	Fetal Heart	heart
25	chr1:242477800-242481400	Weak transcription	HMEC	breast
26	chr1:242477800-242485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:242481200-242481400	Enhancers	Brain Hippocampus Middle	brain
28	chr1:242481200-242481600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:242481200-242481800	Enhancers	Fetal Brain Male	brain
30	chr1:242481400-242481600	Bivalent Enhancer	Brain Hippocampus Middle	brain
31	chr1:242481400-242481800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:242481400-242481800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:242481400-242481800	Enhancers	Aorta	Aorta
34	chr1:242481400-242481800	Enhancers	HMEC	breast
35	chr1:242481400-242482000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:242481400-242482000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:242481600-242481800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:242481800-242483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:242481800-242485000	Weak transcription	HMEC	breast
40	chr1:242481800-242485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:242481800-242485400	Weak transcription	Aorta	Aorta
42	chr1:242485000-242486000	Enhancers	HMEC	breast
43	chr1:242485400-242485600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:242485400-242485600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:242485400-242485600	ZNF genes & repeats	Aorta	Aorta
46	chr1:242485400-242486000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:242485600-242485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:242485600-242494400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:242485600-242555400	Weak transcription	Aorta	Aorta
50	chr1:242486000-242488000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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