Variant report

Variant	nsv499230
Chromosome Location	chr7:102875319-102877886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571990234	chr7:102875728-102875729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35450693	chr7:102875737-102875738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186134271	chr7:102875816-102875817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189807005	chr7:102875826-102875827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575998611	chr7:102875835-102875836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182135601	chr7:102875857-102875858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112983616	chr7:102875950-102875951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565015603	chr7:102875982-102875983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532139757	chr7:102875988-102875989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551980505	chr7:102876065-102876066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567320767	chr7:102876080-102876081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377168558	chr7:102876171-102876172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560711268	chr7:102876228-102876229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527977415	chr7:102876300-102876301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549707321	chr7:102876305-102876306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562177493	chr7:102876377-102876378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530761667	chr7:102876388-102876389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187141493	chr7:102876459-102876460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113393733	chr7:102876495-102876496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139535442	chr7:102876626-102876627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528216241	chr7:102876658-102876659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546584909	chr7:102876761-102876762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571699696	chr7:102876829-102876830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4999173	chr7:102876956-102876957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147777856	chr7:102876983-102876984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571953570	chr7:102877005-102877006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113067539	chr7:102877023-102877024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536103920	chr7:102877113-102877114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111384767	chr7:102877122-102877123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11983992	chr7:102877242-102877243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575921544	chr7:102877250-102877251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538655588	chr7:102877257-102877258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192891286	chr7:102877261-102877262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183618747	chr7:102877299-102877300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577007300	chr7:102877343-102877344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112786958	chr7:102877345-102877346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192821772	chr7:102877346-102877347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373478703	chr7:102877495-102877496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145303801	chr7:102877585-102877586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184972686	chr7:102877608-102877609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147628303	chr7:102877731-102877732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531947473	chr7:102877744-102877745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2909164	chr7:102877826-102877827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2909163	chr7:102877838-102877839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189350981	chr7:102877850-102877851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102875600-102876600	Enhancers	Liver	Liver
2	chr7:102876600-102881000	Weak transcription	Liver	Liver

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