Variant report

Variant	nsv818490
Chromosome Location	chr7:18093358-18094287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7804628	chr7:18093358-18093359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555370520	chr7:18093361-18093362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35851194	chr7:18093369-18093370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573682016	chr7:18093430-18093431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145084453	chr7:18093448-18093449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146854274	chr7:18093523-18093524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140868634	chr7:18093551-18093552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182876428	chr7:18093557-18093558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540176204	chr7:18093582-18093583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528214069	chr7:18093587-18093588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546693347	chr7:18093631-18093632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561709135	chr7:18093637-18093638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143072155	chr7:18093749-18093750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550505427	chr7:18093767-18093768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76011503	chr7:18093770-18093771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540092732	chr7:18093781-18093782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551581940	chr7:18093801-18093802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148228356	chr7:18093805-18093806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534062233	chr7:18093821-18093822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575219443	chr7:18093860-18093861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555431822	chr7:18093867-18093868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376002353	chr7:18093902-18093903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141149690	chr7:18093904-18093905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11486793	chr7:18093924-18093925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564343491	chr7:18093934-18093935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575462727	chr7:18093948-18093949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373176762	chr7:18093983-18093984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546090644	chr7:18093990-18093991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558008489	chr7:18094062-18094063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573056007	chr7:18094104-18094105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4449697	chr7:18094115-18094116	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs561772439	chr7:18094193-18094194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552179478	chr7:18094203-18094204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371046248	chr7:18094211-18094212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543882708	chr7:18094221-18094222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562490848	chr7:18094240-18094241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562477196	chr7:18094275-18094276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1961969	chr7:18094287-18094288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Autism	20531469	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18091000-18095000	Weak transcription	Fetal Heart	heart
2	chr7:18092400-18093600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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