Variant report

Variant	esv274887
Chromosome Location	chr4:30066324-30071181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565146368	chr4:30069212-30069213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4261947	chr4:30069236-30069237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546877677	chr4:30069247-30069248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141503302	chr4:30069266-30069267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538742121	chr4:30069274-30069275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559021084	chr4:30069309-30069310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35085717	chr4:30069357-30069358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575682002	chr4:30069370-30069371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547257760	chr4:30069635-30069636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73809463	chr4:30069640-30069641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs57714252	chr4:30069647-30069648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562158247	chr4:30069659-30069660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs66867855	chr4:30069686-30069687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs57939446	chr4:30069714-30069715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186779147	chr4:30069720-30069721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10000261	chr4:30069726-30069727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs60731073	chr4:30069733-30069734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35985521	chr4:30069734-30069735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566930343	chr4:30069745-30069746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376917090	chr4:30069781-30069782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561870733	chr4:30069789-30069790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539145352	chr4:30069790-30069791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144445182	chr4:30069798-30069799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569284658	chr4:30069803-30069804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148419004	chr4:30069818-30069819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141678589	chr4:30069838-30069839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150548533	chr4:30069858-30069859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565568998	chr4:30069866-30069867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59269893	chr4:30069902-30069903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576925996	chr4:30069908-30069909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530523943	chr4:30069913-30069914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545500782	chr4:30069929-30069930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61587428	chr4:30069936-30069937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575730992	chr4:30069937-30069938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57823715	chr4:30069961-30069962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561514718	chr4:30069992-30069993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532740732	chr4:30070004-30070005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140899505	chr4:30070023-30070024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192583751	chr4:30070032-30070033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144858387	chr4:30070049-30070050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34667892	chr4:30070051-30070052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113314145	chr4:30070062-30070063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552799361	chr4:30070070-30070071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112908540	chr4:30070112-30070113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531825020	chr4:30070147-30070148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147947758	chr4:30070158-30070159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568332184	chr4:30070169-30070170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534106051	chr4:30070174-30070175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553740540	chr4:30070178-30070179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570626629	chr4:30070198-30070199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30069200-30069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:30069600-30074400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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