Variant report

Variant	nsv608268
Chromosome Location	chr7:118829223-118838796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:
2	chr7:118558340..118559254-chr7:118837696..118838683,4	MCF-7	breast:
3	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs10264965	chr7:118829223-118829224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555324218	chr7:118829224-118829225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192879838	chr7:118829232-118829233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142288681	chr7:118829257-118829258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147031965	chr7:118829316-118829317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577423535	chr7:118829326-118829327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543164533	chr7:118829352-118829353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563285443	chr7:118829377-118829378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113146938	chr7:118829380-118829381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185310902	chr7:118829395-118829396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559718809	chr7:118829406-118829407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116808635	chr7:118829462-118829463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551865091	chr7:118829477-118829478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11505942	chr7:118829489-118829490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75595390	chr7:118829513-118829514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551185340	chr7:118829521-118829522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35525348	chr7:118829523-118829524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138322328	chr7:118829534-118829535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181981076	chr7:118829615-118829616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536921862	chr7:118829617-118829618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373129674	chr7:118829642-118829643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112023803	chr7:118829707-118829708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565685184	chr7:118829721-118829722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75657519	chr7:118829729-118829730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185058303	chr7:118829758-118829759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111687293	chr7:118829762-118829763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188207620	chr7:118829793-118829794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556717062	chr7:118829820-118829821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573474162	chr7:118829850-118829851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545072967	chr7:118829852-118829853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542926369	chr7:118829908-118829909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181087941	chr7:118829921-118829922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112359167	chr7:118829947-118829948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186324925	chr7:118829963-118829964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62477145	chr7:118829981-118829982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191461413	chr7:118829989-118829990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531009470	chr7:118830018-118830019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150336637	chr7:118830025-118830026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185956558	chr7:118830049-118830050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149396690	chr7:118830071-118830072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547280124	chr7:118830173-118830174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567006382	chr7:118830191-118830192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190753001	chr7:118830226-118830227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530916251	chr7:118830250-118830251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543998668	chr7:118830258-118830259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536771792	chr7:118830305-118830306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78996573	chr7:118830354-118830355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73718786	chr7:118830383-118830384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144795520	chr7:118830406-118830407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375627144	chr7:118830423-118830424	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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118816200-118829600	Weak transcription	Right Atrium	heart
2	chr7:118828200-118832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:118835800-118836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:118836600-118837000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:118836600-118838000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:118836600-118838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:118837200-118838000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:118837200-118838000	Enhancers	HMEC	breast
9	chr7:118837200-118838200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:118837400-118838000	Enhancers	NHEK	skin
11	chr7:118837800-118838200	Enhancers	Dnd41	blood
12	chr7:118838000-118838400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:118838400-118839600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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