Variant report

Variant	nsv981413
Chromosome Location	chr7:122368613-122373070
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	chr7:122368871..122371613-chr7:122375877..122379228,3	MCF-7	breast:

Extended variants
information (count: 172 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs12537488	chr7:122368617-122368618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs66798940	chr7:122368663-122368664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568527417	chr7:122368666-122368667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6978244	chr7:122368717-122368718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188934489	chr7:122368739-122368740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373692074	chr7:122368756-122368757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556122599	chr7:122368764-122368765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540163452	chr7:122368806-122368807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546950095	chr7:122368820-122368821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571203466	chr7:122368834-122368835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76203417	chr7:122368869-122368870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569311586	chr7:122368895-122368896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535042451	chr7:122368931-122368932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375627532	chr7:122368940-122368941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181933673	chr7:122368941-122368942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571778540	chr7:122368944-122368945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186303253	chr7:122368947-122368948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530557366	chr7:122368951-122368952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113442701	chr7:122368952-122368953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147621054	chr7:122369004-122369005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543747845	chr7:122369007-122369008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563528449	chr7:122369042-122369043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189341102	chr7:122369111-122369112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180888611	chr7:122369124-122369125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79940747	chr7:122369138-122369139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527816900	chr7:122369151-122369152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567812331	chr7:122369212-122369213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77321479	chr7:122369214-122369215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547560555	chr7:122369244-122369245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141614888	chr7:122369253-122369254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533316134	chr7:122369266-122369267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550069799	chr7:122369335-122369336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147064835	chr7:122369344-122369345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535102625	chr7:122369366-122369367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536456782	chr7:122369409-122369410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548596320	chr7:122369415-122369416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73222407	chr7:122369424-122369425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534755977	chr7:122369434-122369435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557565740	chr7:122369439-122369440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566843870	chr7:122369443-122369444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536806540	chr7:122369454-122369455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557310344	chr7:122369456-122369457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570817128	chr7:122369461-122369462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573956399	chr7:122369476-122369477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186485227	chr7:122369523-122369524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562077142	chr7:122369529-122369530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572305792	chr7:122369536-122369537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541563686	chr7:122369540-122369541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564417200	chr7:122369569-122369570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117352546	chr7:122369613-122369614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122359600-122376000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:122359600-122376200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:122359800-122375000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:122365600-122376200	Weak transcription	Fetal Kidney	kidney
5	chr7:122366000-122384200	Weak transcription	Pancreas	Pancrea
6	chr7:122367200-122373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:122368200-122378800	Weak transcription	Stomach Mucosa	stomach
8	chr7:122369200-122377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:122370600-122371400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:122370600-122371800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:122371200-122371800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:122371800-122374800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:122371800-122374800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:122372000-122386600	Weak transcription	Ovary	ovary
15	chr7:122373000-122373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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