Variant report

Variant	nsv945407
Chromosome Location	chr1:242221267-242232587
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	chr1:242217500..242220203-chr1:242220898..242222680,2	K562	blood:
2	chr1:242219802..242221772-chr1:242224565..242228603,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224625	chromatin interactions

Extended variants
information (count: 408 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529682434	chr1:242221314-242221315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529196240	chr1:242221320-242221321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570584448	chr1:242221346-242221347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs36002470	chr1:242221358-242221359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76187652	chr1:242221359-242221360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187410091	chr1:242221434-242221435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532486267	chr1:242221468-242221469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147026551	chr1:242221469-242221470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139867850	chr1:242221497-242221498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374524892	chr1:242221501-242221502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531535328	chr1:242221503-242221504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12752430	chr1:242221504-242221505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189742483	chr1:242221520-242221521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560554397	chr1:242221528-242221529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527747894	chr1:242221578-242221579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568229518	chr1:242221599-242221600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557132646	chr1:242221629-242221630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553777803	chr1:242221642-242221643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570793282	chr1:242221645-242221646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566242008	chr1:242221655-242221656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376520498	chr1:242221662-242221663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539792248	chr1:242221698-242221699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552736058	chr1:242221801-242221802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576521495	chr1:242221812-242221813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370027988	chr1:242221838-242221839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554342896	chr1:242221907-242221908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574615657	chr1:242221915-242221916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571032764	chr1:242221918-242221919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182349368	chr1:242221940-242221941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138275929	chr1:242221950-242221951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577203796	chr1:242221957-242221958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545729256	chr1:242222008-242222009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376883669	chr1:242222020-242222021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562809582	chr1:242222022-242222023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531368894	chr1:242222023-242222024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11588820	chr1:242222029-242222030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548385803	chr1:242222035-242222036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376964134	chr1:242222057-242222058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11588823	chr1:242222108-242222109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527813973	chr1:242222133-242222134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547385060	chr1:242222142-242222143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143680673	chr1:242222163-242222164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148384598	chr1:242222211-242222212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570466103	chr1:242222235-242222236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539831183	chr1:242222236-242222237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550173767	chr1:242222238-242222239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570350748	chr1:242222241-242222242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535651836	chr1:242222242-242222243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556033020	chr1:242222245-242222246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574577297	chr1:242222247-242222248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242220400-242226200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:242221200-242221400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242221200-242223800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:242222400-242222800	Enhancers	GM12878-XiMat	blood
5	chr1:242223800-242224600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:242225000-242228600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:242226200-242226400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:242228800-242229000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:242231000-242231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:242231200-242231800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:242231800-242232800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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