Variant report

Variant	esv3385804
Chromosome Location	chr4:69604763-69606811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183417342	chr4:69604766-69604767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186670244	chr4:69604870-69604871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551638954	chr4:69604892-69604893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191351845	chr4:69604893-69604894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142329037	chr4:69604927-69604928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3100653	chr4:69604936-69604937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567281932	chr4:69604953-69604954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535828330	chr4:69604954-69604955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377031125	chr4:69604955-69604956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556122264	chr4:69604965-69604966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576097933	chr4:69605042-69605043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs423497	chr4:69605066-69605067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114462120	chr4:69605074-69605075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532419409	chr4:69605127-69605128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577786732	chr4:69605147-69605148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551240242	chr4:69605149-69605150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200226664	chr4:69605178-69605179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200677746	chr4:69605182-69605183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372091079	chr4:69605183-69605184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376869036	chr4:69605204-69605205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374339888	chr4:69605260-69605261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540540320	chr4:69605286-69605287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376199005	chr4:69605310-69605311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560371939	chr4:69605354-69605355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374041	chr4:69605393-69605394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182718683	chr4:69605394-69605395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs424254	chr4:69605412-69605413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377237844	chr4:69605425-69605426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188235158	chr4:69605448-69605449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551882256	chr4:69605483-69605484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368787541	chr4:69605501-69605502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376847779	chr4:69605502-69605503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373194195	chr4:69605522-69605523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371897035	chr4:69605524-69605525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375185581	chr4:69605526-69605527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375383295	chr4:69605537-69605538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369145190	chr4:69605547-69605548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs415635	chr4:69605577-69605578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576784061	chr4:69605598-69605599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571485293	chr4:69605607-69605608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569089811	chr4:69605609-69605610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115187697	chr4:69605620-69605621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369938982	chr4:69605622-69605623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192801605	chr4:69605624-69605625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547719612	chr4:69605640-69605641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567497835	chr4:69605642-69605643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536538692	chr4:69605644-69605645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185098749	chr4:69605707-69605708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188978585	chr4:69605737-69605738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7681961	chr4:69605785-69605786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69602800-69613400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69605200-69610000	Weak transcription	HepG2	liver
3	chr4:69606000-69606200	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr4:69606200-69609800	Weak transcription	Fetal Intestine Small	intestine

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