Variant report

Variant	nsv5993
Chromosome Location	chr7:145970629-146015976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40835299..40835996-chr7:145980649..145981149,2	Hela-S3	cervix:
2	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
3	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
4	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
5	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:
6	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:
7	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:

Variant related genes	Relation type
ENSG00000145592	chromatin interactions

Extended variants
information (count: 694 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534305016	chr7:145970651-145970652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546152081	chr7:145970696-145970697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375843166	chr7:145970773-145970774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566051670	chr7:145970815-145970816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150623150	chr7:145970833-145970834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557940156	chr7:145970862-145970863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576221639	chr7:145970875-145970876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76460557	chr7:145970880-145970881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182074097	chr7:145970893-145970894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574013444	chr7:145970920-145970921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541083081	chr7:145970993-145970994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116767080	chr7:145971010-145971011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578002674	chr7:145971081-145971082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187655753	chr7:145971085-145971086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139971735	chr7:145971101-145971102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530595955	chr7:145971104-145971105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527969814	chr7:145971158-145971159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190538991	chr7:145971191-145971192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60526820	chr7:145971233-145971234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183146409	chr7:145971246-145971247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546189129	chr7:145971267-145971268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551546349	chr7:145971268-145971269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533488005	chr7:145971288-145971289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551657569	chr7:145971313-145971314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570260875	chr7:145971357-145971358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549394975	chr7:145971363-145971364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537235701	chr7:145971367-145971368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187556270	chr7:145971391-145971392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567676981	chr7:145971433-145971434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535073339	chr7:145971434-145971435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553414005	chr7:145971450-145971451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566559905	chr7:145971455-145971456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149863256	chr7:145971478-145971479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557277557	chr7:145971534-145971535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370668836	chr7:145971564-145971565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190128264	chr7:145971568-145971569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561089030	chr7:145971574-145971575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs802507	chr7:145971603-145971604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6950309	chr7:145971628-145971629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544811625	chr7:145971647-145971648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564587390	chr7:145971666-145971667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531961351	chr7:145971707-145971708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551694127	chr7:145971734-145971735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115187400	chr7:145971764-145971765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531208864	chr7:145971796-145971797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549314949	chr7:145971824-145971825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567808010	chr7:145971825-145971826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77002578	chr7:145971846-145971847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11431175	chr7:145971860-145971861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535170214	chr7:145971872-145971873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145963200-145987200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:145982800-145983000	Active TSS	HSMM	muscle
3	chr7:145983000-145983200	Flanking Active TSS	HSMM	muscle
4	chr7:145983200-145984200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:145983200-145984400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:145983400-145984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:145983400-145984600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:145983600-145983800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:145983600-145984200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:145984000-145984600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:145987200-145987400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:145992800-145993600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:145993200-145993600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:146011800-146012600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:146012000-146012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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