Variant report

Variant	nsv436926
Chromosome Location	chr3:163650181-163667184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163647521..163649115-chr3:163652164..163654381,2	MCF-7	breast:
2	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
3	chr1:219388883..219389633-chr3:163652052..163652630,2	MCF-7	breast:
4	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
5	chr3:163219408..163221189-chr3:163663438..163665910,2	K562	blood:
6	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
7	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3903763	chr3:163650181-163650182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11914838	chr3:163650254-163650255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78989618	chr3:163650255-163650256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544042596	chr3:163650289-163650290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569583249	chr3:163650374-163650375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538841013	chr3:163650375-163650376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538606708	chr3:163650380-163650381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377596973	chr3:163650384-163650385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533009200	chr3:163650397-163650398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374820614	chr3:163650508-163650509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11926779	chr3:163650527-163650528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560054392	chr3:163650561-163650562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528450280	chr3:163650564-163650565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148347533	chr3:163650565-163650566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568430598	chr3:163650712-163650713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567130707	chr3:163650756-163650757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193092313	chr3:163650793-163650794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550848754	chr3:163650849-163650850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368022487	chr3:163650863-163650864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373750508	chr3:163650888-163650889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557662307	chr3:163650895-163650896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540080037	chr3:163650921-163650922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553688848	chr3:163650926-163650927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113772040	chr3:163650990-163650991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7645490	chr3:163657804-163657805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577634069	chr3:163657848-163657849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10936378	chr3:163657889-163657890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553017702	chr3:163657912-163657913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570794659	chr3:163657922-163657923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572806782	chr3:163657932-163657933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3849461	chr3:163657933-163657934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555100693	chr3:163657969-163657970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561670246	chr3:163657986-163657987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34761378	chr3:163658028-163658029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544027010	chr3:163658074-163658075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564008556	chr3:163658136-163658137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182460921	chr3:163658183-163658184	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163646000-163650600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:163650600-163651000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:163657800-163658200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:163657800-163658200	Enhancers	HUES6 Cell Line	embryonic stem cell

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