Variant report

Variant	nsv824273
Chromosome Location	chr7:113023216-113023882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368985301	chr7:113023244-113023245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539654349	chr7:113023259-113023260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2396623	chr7:113023277-113023278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1701831	chr7:113023310-113023311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200522840	chr7:113023328-113023329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374604431	chr7:113023343-113023344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373036625	chr7:113023347-113023348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149130934	chr7:113023351-113023352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71157508	chr7:113023352-113023353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202084739	chr7:113023354-113023355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61676823	chr7:113023375-113023376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537352657	chr7:113023381-113023382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377689961	chr7:113023504-113023505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555355107	chr7:113023522-113023523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141330874	chr7:113023532-113023533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201061589	chr7:113023536-113023537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540733276	chr7:113023537-113023538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553065262	chr7:113023542-113023543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77515584	chr7:113023549-113023550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71561797	chr7:113023564-113023565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578092871	chr7:113023570-113023571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376881498	chr7:113023574-113023575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369600932	chr7:113023577-113023578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56904603	chr7:113023591-113023592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545632342	chr7:113023619-113023620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567860559	chr7:113023625-113023626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531072020	chr7:113023630-113023631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542919663	chr7:113023656-113023657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142429312	chr7:113023658-113023659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56774556	chr7:113023662-113023663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61535247	chr7:113023666-113023667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10238972	chr7:113023706-113023707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187089169	chr7:113023771-113023772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7780151	chr7:113023852-113023853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:113009000-113024200	Weak transcription	Fetal Brain Female	brain
2	chr7:113023000-113024000	Enhancers	Fetal Brain Male	brain
3	chr7:113023200-113026200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:113023800-113024000	Enhancers	Pancreas	Pancrea
5	chr7:113023800-113024200	Enhancers	Fetal Heart	heart

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