Variant report

Variant	nsv522426
Chromosome Location	chr7:146751635-146754454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10266239	chr7:146751635-146751636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111629599	chr7:146751661-146751662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142922081	chr7:146751672-146751673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371822637	chr7:146751684-146751685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113710386	chr7:146751692-146751693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576192269	chr7:146751733-146751734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192933934	chr7:146751760-146751761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561982439	chr7:146751761-146751762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527547698	chr7:146751779-146751780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150663222	chr7:146751807-146751808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564449732	chr7:146751850-146751851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183492234	chr7:146751877-146751878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533306171	chr7:146751923-146751924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10266622	chr7:146751925-146751926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs75580135	chr7:146751990-146751991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137997835	chr7:146752015-146752016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549134227	chr7:146752018-146752019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187989426	chr7:146752030-146752031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534967802	chr7:146752075-146752076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192995557	chr7:146752076-146752077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112040444	chr7:146752083-146752084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544495671	chr7:146752097-146752098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570415975	chr7:146752117-146752118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79519531	chr7:146752137-146752138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556224702	chr7:146752171-146752172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576026552	chr7:146752178-146752179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143899339	chr7:146752183-146752184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555583795	chr7:146752195-146752196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572396850	chr7:146752197-146752198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112776889	chr7:146752228-146752229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541328502	chr7:146752247-146752248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564185782	chr7:146752273-146752274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111515611	chr7:146752276-146752277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113670586	chr7:146752282-146752283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577972323	chr7:146752284-146752285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543425587	chr7:146752332-146752333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563821051	chr7:146752335-146752336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144520953	chr7:146752402-146752403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549195586	chr7:146752412-146752413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113242369	chr7:146752415-146752416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528803042	chr7:146752426-146752427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551665131	chr7:146752437-146752438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570234459	chr7:146752450-146752451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571797872	chr7:146752457-146752458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73467053	chr7:146752475-146752476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549475622	chr7:146752495-146752496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569765524	chr7:146752508-146752509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528470376	chr7:146752513-146752514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535521139	chr7:146752550-146752551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143096668	chr7:146752554-146752555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146750400-146753400	Weak transcription	Fetal Lung	lung
2	chr7:146752600-146752800	Enhancers	Gastric	stomach
3	chr7:146753400-146753600	Enhancers	Fetal Lung	lung
4	chr7:146753600-146754200	Weak transcription	Fetal Lung	lung
5	chr7:146754200-146755200	Enhancers	Fetal Lung	lung

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