Variant report

Variant	esv3384238
Chromosome Location	chr4:28563604-28565602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575587713	chr4:28563634-28563635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544438273	chr4:28563669-28563670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561099592	chr4:28563712-28563713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139370682	chr4:28563713-28563714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543059026	chr4:28563739-28563740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559874049	chr4:28563821-28563822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559591434	chr4:28563829-28563830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528508883	chr4:28563963-28563964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377251936	chr4:28563971-28563972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571638698	chr4:28563974-28563975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193151410	chr4:28564001-28564002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550909992	chr4:28564038-28564039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567808020	chr4:28564042-28564043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185657322	chr4:28564146-28564147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368997521	chr4:28564157-28564158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75838762	chr4:28564166-28564167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187489987	chr4:28564204-28564205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34502334	chr4:28564282-28564283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538665677	chr4:28564306-28564307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558559551	chr4:28564311-28564312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575622640	chr4:28564312-28564313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370664546	chr4:28564354-28564355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375499209	chr4:28564399-28564400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554469567	chr4:28564408-28564409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574620371	chr4:28564440-28564441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531759216	chr4:28564443-28564444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377661335	chr4:28564452-28564453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540046289	chr4:28564471-28564472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559834155	chr4:28564539-28564540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548976153	chr4:28564569-28564570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528546469	chr4:28564577-28564578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192006779	chr4:28564578-28564579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377034748	chr4:28564594-28564595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7690177	chr4:28564598-28564599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202227165	chr4:28564603-28564604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61269019	chr4:28564610-28564611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373886176	chr4:28564611-28564612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530842078	chr4:28564635-28564636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564900961	chr4:28564654-28564655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112538320	chr4:28564660-28564661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184241472	chr4:28564737-28564738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567861502	chr4:28564738-28564739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530351388	chr4:28564748-28564749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546857174	chr4:28564784-28564785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2458615	chr4:28564786-28564787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538699972	chr4:28564788-28564789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552209409	chr4:28564905-28564906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143265636	chr4:28564919-28564920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147512098	chr4:28565001-28565002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554891651	chr4:28565048-28565049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28559600-28566600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:28561200-28564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:28564000-28564200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:28564200-28564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:28564800-28565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:28565400-28568000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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