Variant report

Variant	nsv970566
Chromosome Location	chr7:102811314-102825090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3987923	chr7:102811361-102811362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562838946	chr7:102811430-102811431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578070358	chr7:102811465-102811466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3987924	chr7:102811496-102811497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3864563	chr7:102811497-102811498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201843179	chr7:102811523-102811524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544861527	chr7:102811551-102811552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3987925	chr7:102811604-102811605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3987926	chr7:102811638-102811639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60942315	chr7:102811646-102811647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3987927	chr7:102811686-102811687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111663915	chr7:102811706-102811707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3987928	chr7:102811707-102811708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12532690	chr7:102811721-102811722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3987929	chr7:102811723-102811724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549307428	chr7:102811737-102811738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58286386	chr7:102811741-102811742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531327067	chr7:102811745-102811746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3987930	chr7:102811769-102811770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549773328	chr7:102811834-102811835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3987931	chr7:102811840-102811841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3987932	chr7:102811850-102811851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571237175	chr7:102811853-102811854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2909186	chr7:102811861-102811862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56711496	chr7:102811865-102811866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs3987934	chr7:102811883-102811884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3959193	chr7:102811915-102811916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2909185	chr7:102811925-102811926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57107963	chr7:102811963-102811964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113742043	chr7:102811969-102811970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3987935	chr7:102811980-102811981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3987936	chr7:102811985-102811986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3987903	chr7:102812071-102812072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566729041	chr7:102812077-102812078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3959195	chr7:102812080-102812081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534185002	chr7:102812095-102812096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3987904	chr7:102812096-102812097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3987905	chr7:102812112-102812113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3987906	chr7:102812113-102812114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537715863	chr7:102812117-102812118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3987907	chr7:102812121-102812122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537830487	chr7:102812177-102812178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182933241	chr7:102812191-102812192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188004523	chr7:102812194-102812195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62480090	chr7:102812272-102812273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs141698821	chr7:102812305-102812306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201079773	chr7:102812351-102812352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553722102	chr7:102812384-102812385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572260077	chr7:102812412-102812413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542890351	chr7:102812430-102812431	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102808200-102812200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:102812000-102812600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:102812200-102812600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:102812200-102812600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:102812200-102813600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:102812400-102813000	Enhancers	Fetal Brain Male	brain
7	chr7:102812600-102813000	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:102813800-102814200	Enhancers	K562	blood

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