Variant report

Variant	esv3464912
Chromosome Location	chr4:22663017-22666252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145837866	chr4:22663025-22663026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs114272266	chr4:22663060-22663061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545291437	chr4:22663101-22663102	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563676996	chr4:22663115-22663116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529131112	chr4:22663219-22663220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542657100	chr4:22663261-22663262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561404218	chr4:22663262-22663263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114519732	chr4:22663280-22663281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547105358	chr4:22663314-22663315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571445311	chr4:22663343-22663344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532395583	chr4:22663363-22663364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550886385	chr4:22663392-22663393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2581969	chr4:22663395-22663396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536209579	chr4:22663477-22663478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556128761	chr4:22663503-22663504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547902089	chr4:22663504-22663505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59785842	chr4:22663557-22663558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77014963	chr4:22663562-22663563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184360372	chr4:22663563-22663564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374554030	chr4:22663564-22663565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538854662	chr4:22663599-22663600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557183360	chr4:22663644-22663645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148978221	chr4:22663679-22663680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375214237	chr4:22663773-22663774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547225925	chr4:22663780-22663781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561110141	chr4:22663807-22663808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7657970	chr4:22663848-22663849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374432467	chr4:22663882-22663883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367956504	chr4:22663903-22663904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73106146	chr4:22663931-22663932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372181224	chr4:22663963-22663964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534285887	chr4:22664011-22664012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376666225	chr4:22664041-22664042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562746705	chr4:22664100-22664101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559605388	chr4:22664115-22664116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548501310	chr4:22664196-22664197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533042453	chr4:22664235-22664236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7658624	chr4:22664310-22664311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551812943	chr4:22664318-22664319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570214497	chr4:22664319-22664320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538818400	chr4:22664357-22664358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557148164	chr4:22664363-22664364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143823636	chr4:22664392-22664393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368303883	chr4:22664394-22664395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536523680	chr4:22664399-22664400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570107998	chr4:22664409-22664410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376839243	chr4:22664416-22664417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190232628	chr4:22664422-22664423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182308354	chr4:22664432-22664433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372541085	chr4:22664445-22664446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
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
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22662200-22663800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:22662600-22663200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:22662600-22663400	Enhancers	HMEC	breast
4	chr4:22662800-22663200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:22662800-22663200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:22662800-22663200	Enhancers	Placenta	Placenta
7	chr4:22663000-22663400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:22663000-22663400	Flanking Active TSS	NHEK	skin
9	chr4:22663200-22668000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:22663200-22668600	Weak transcription	Placenta	Placenta
11	chr4:22663200-22674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:22663400-22663800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:22663400-22664000	Enhancers	NHEK	skin
14	chr4:22663800-22665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:22663800-22668400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:22664000-22668200	Weak transcription	NHEK	skin
17	chr4:22665000-22665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:22665400-22665800	Enhancers	Fetal Intestine Small	intestine
19	chr4:22665600-22666000	Enhancers	Liver	Liver
20	chr4:22665800-22670000	Weak transcription	Fetal Intestine Small	intestine
21	chr4:22666000-22669200	Weak transcription	Liver	Liver

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