Variant report

Variant	nsv608320
Chromosome Location	chr7:119133195-119177670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:119171216..119174031-chr7:119180101..119182290,2	K562	blood:
2	chr7:119174664..119177243-chr7:119179086..119181541,2	K562	blood:
3	chr6:81998528..81999232-chr7:119153061..119154054,2	MCF-7	breast:
4	chr7:119119277..119121222-chr7:119136610..119138824,2	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73719336	chr7:119133405-119133406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13309060	chr7:119133501-119133502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560805594	chr7:119133508-119133509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs5886958	chr7:119133509-119133510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112648426	chr7:119133515-119133516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13309104	chr7:119133595-119133596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551970014	chr7:119133615-119133616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13309042	chr7:119133663-119133664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13309044	chr7:119133666-119133667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13309397	chr7:119133674-119133675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13309148	chr7:119133675-119133676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373599996	chr7:119133677-119133678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13309399	chr7:119133681-119133682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562952760	chr7:119133686-119133687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13309048	chr7:119133709-119133710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117707746	chr7:119133773-119133774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13309121	chr7:119133780-119133781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142087584	chr7:119133785-119133786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13309122	chr7:119133789-119133790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13309124	chr7:119133796-119133797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532619856	chr7:119133827-119133828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10155844	chr7:119133865-119133866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548091131	chr7:119133872-119133873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571174395	chr7:119133880-119133881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117890483	chr7:119133899-119133900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556484321	chr7:119133915-119133916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575260662	chr7:119133991-119133992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113642811	chr7:119134007-119134008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569249636	chr7:119134056-119134057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373634076	chr7:119134080-119134081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554697364	chr7:119134110-119134111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10156039	chr7:119134166-119134167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539878355	chr7:119134205-119134206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559981995	chr7:119134316-119134317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576728287	chr7:119134355-119134356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548590397	chr7:119134357-119134358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192106985	chr7:119134463-119134464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562534136	chr7:119134559-119134560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531580662	chr7:119134570-119134571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548369688	chr7:119134577-119134578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183930941	chr7:119134578-119134579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527649952	chr7:119134588-119134589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568436827	chr7:119134653-119134654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534318559	chr7:119134661-119134662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10263097	chr7:119134784-119134785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571112919	chr7:119134805-119134806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201680916	chr7:119134807-119134808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540148401	chr7:119134809-119134810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573080222	chr7:119134829-119134830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570149683	chr7:119134885-119134886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119133400-119134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:119134400-119135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:119135400-119135800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:119154400-119155600	Enhancers	Liver	Liver
5	chr7:119173400-119175200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:119174600-119174800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:119174800-119175400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:119174800-119175800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:119175200-119175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:119175400-119176000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:119175600-119176000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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