Variant report

Variant	nsv593796
Chromosome Location	chr4:21117213-21119179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16870429	chr4:21117213-21117214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530397532	chr4:21117221-21117222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548585820	chr4:21117290-21117291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147792765	chr4:21117313-21117314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386672384	chr4:21117316-21117317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560759476	chr4:21117317-21117318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1897667	chr4:21117334-21117335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs374115805	chr4:21117429-21117430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574862650	chr4:21117473-21117474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571412884	chr4:21117509-21117510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538837694	chr4:21117515-21117516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550864171	chr4:21117535-21117536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143055674	chr4:21117615-21117616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181224525	chr4:21117630-21117631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555710414	chr4:21117649-21117650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577038425	chr4:21117671-21117672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531937407	chr4:21117677-21117678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185670758	chr4:21117690-21117691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553199485	chr4:21117757-21117758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78768337	chr4:21117763-21117764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545220133	chr4:21117765-21117766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11929857	chr4:21117778-21117779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148223197	chr4:21117797-21117798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141256247	chr4:21117808-21117809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117146820	chr4:21117825-21117826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528116917	chr4:21117846-21117847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190074319	chr4:21117866-21117867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564848266	chr4:21117888-21117889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527743968	chr4:21117931-21117932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532311012	chr4:21117949-21117950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16870430	chr4:21117950-21117951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529720896	chr4:21117974-21117975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77578483	chr4:21117978-21117979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201086603	chr4:21117986-21117987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201500344	chr4:21117989-21117990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182246354	chr4:21118017-21118018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368509723	chr4:21118053-21118054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11939115	chr4:21118054-21118055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs150356765	chr4:21118063-21118064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534711988	chr4:21118156-21118157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553404869	chr4:21118172-21118173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529115213	chr4:21118249-21118250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542047500	chr4:21118267-21118268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571424444	chr4:21118285-21118286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73802495	chr4:21118302-21118303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138111331	chr4:21118309-21118310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576319294	chr4:21118316-21118317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557113602	chr4:21118323-21118324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79842558	chr4:21118336-21118337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77082045	chr4:21118403-21118404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21115000-21119800	Weak transcription	Ovary	ovary
2	chr4:21115400-21119200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:21115600-21119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:21116800-21120000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:21118800-21119000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:21118800-21119200	Active TSS	HSMM	muscle
7	chr4:21119000-21120200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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