Variant report

Variant	nsv438002
Chromosome Location	chr7:120556620-120559538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120554091..120556706-chr7:120557513..120559992,2	K562	blood:
2	chr7:120555523..120558185-chr7:120561718..120564428,2	K562	blood:
3	chr7:120557106..120558651-chr7:120584404..120586446,2	K562	blood:
4	chr7:120558221..120561390-chr7:120571663..120574345,3	MCF-7	breast:
5	chr7:120554091..120556706-chr7:120557513..120559992,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2524951	chr7:120556620-120556621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183223170	chr7:120556688-120556689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556042071	chr7:120556760-120556761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567591481	chr7:120556770-120556771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541304835	chr7:120556771-120556772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76542753	chr7:120556795-120556796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141169109	chr7:120556805-120556806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577611840	chr7:120556823-120556824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533259943	chr7:120556828-120556829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558751884	chr7:120556830-120556831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77509064	chr7:120557075-120557076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531548033	chr7:120557150-120557151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146475626	chr7:120557152-120557153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541629924	chr7:120557154-120557155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561896905	chr7:120557218-120557219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79479931	chr7:120557237-120557238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530136334	chr7:120557252-120557253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577280887	chr7:120557262-120557263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558627354	chr7:120557309-120557310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547707170	chr7:120557322-120557323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570512149	chr7:120557338-120557339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187544298	chr7:120557390-120557391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190931982	chr7:120557405-120557406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549914469	chr7:120557429-120557430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182095524	chr7:120557439-120557440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536068625	chr7:120557473-120557474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139981788	chr7:120557505-120557506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187955095	chr7:120557532-120557533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143539542	chr7:120557561-120557562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374614804	chr7:120557563-120557564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368920954	chr7:120557578-120557579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73721486	chr7:120557583-120557584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372413985	chr7:120557593-120557594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192645315	chr7:120557597-120557598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577623929	chr7:120557670-120557671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537011670	chr7:120557708-120557709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185031053	chr7:120557724-120557725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574076146	chr7:120557736-120557737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112137238	chr7:120557750-120557751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143510394	chr7:120557765-120557766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566336555	chr7:120557856-120557857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34377258	chr7:120557860-120557861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372577417	chr7:120557865-120557866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200497472	chr7:120557869-120557870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372471216	chr7:120557875-120557876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377671622	chr7:120557877-120557878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541338405	chr7:120557882-120557883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386717278	chr7:120557946-120557947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2721339	chr7:120557947-120557948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs146751071	chr7:120558023-120558024	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	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120556000-120567200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:120556600-120561600	Weak transcription	Fetal Heart	heart
3	chr7:120557400-120557600	Enhancers	Fetal Muscle Leg	muscle
4	chr7:120557800-120559200	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:120559000-120559800	Enhancers	HSMMtube	muscle
6	chr7:120559200-120559800	Enhancers	Fetal Muscle Leg	muscle

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