Variant report

Variant	esv987707
Chromosome Location	chr4:21900601-21908051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192318462	chr4:21900611-21900612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577110685	chr4:21900616-21900617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183281720	chr4:21900617-21900618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562302616	chr4:21900619-21900620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs528987851	chr4:21900648-21900649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10028678	chr4:21900696-21900697	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10006654	chr4:21900720-21900721	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544612590	chr4:21900729-21900730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs569907121	chr4:21900733-21900734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538586751	chr4:21900734-21900735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539069539	chr4:21900768-21900769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187574184	chr4:21900793-21900794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs56928983	chr4:21900830-21900831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114905533	chr4:21900955-21900956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs138865049	chr4:21901025-21901026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573549368	chr4:21901068-21901069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112229535	chr4:21901089-21901090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553857743	chr4:21901113-21901114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192802298	chr4:21901123-21901124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35058348	chr4:21901175-21901176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372328044	chr4:21901184-21901185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534706541	chr4:21901193-21901194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564531790	chr4:21901209-21901210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576645453	chr4:21901210-21901211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10029164	chr4:21901226-21901227	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562262622	chr4:21901234-21901235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563248243	chr4:21901302-21901303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529511700	chr4:21901303-21901304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368420770	chr4:21901358-21901359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547471662	chr4:21901391-21901392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs60554782	chr4:21901393-21901394	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184648491	chr4:21901406-21901407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148175142	chr4:21901475-21901476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569676077	chr4:21901480-21901481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530714706	chr4:21901545-21901546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548872055	chr4:21901552-21901553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35793169	chr4:21901597-21901598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567082192	chr4:21901598-21901599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534524090	chr4:21901603-21901604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553822642	chr4:21901695-21901696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189973643	chr4:21901736-21901737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539956045	chr4:21901902-21901903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557292668	chr4:21901910-21901911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191831557	chr4:21902012-21902013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35711081	chr4:21902022-21902023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs56102367	chr4:21902023-21902024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375735653	chr4:21902057-21902058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556102270	chr4:21902117-21902118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574248451	chr4:21902127-21902128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184422959	chr4:21902138-21902139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21899400-21901400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:21901400-21903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:21902000-21902200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:21902000-21903400	Enhancers	HMEC	breast
5	chr4:21902000-21904000	Enhancers	NHEK	skin
6	chr4:21902000-21904200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:21902000-21904400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:21902800-21903000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:21902800-21903600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:21903000-21904000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:21903000-21904200	Enhancers	HSMM	muscle
12	chr4:21903000-21904400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:21903400-21903800	Weak transcription	HMEC	breast
14	chr4:21903400-21903800	Enhancers	NH-A	brain
15	chr4:21903800-21904600	Enhancers	HMEC	breast
16	chr4:21906800-21907000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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