Variant report

Variant	esv3323885
Chromosome Location	chr4:62712582-62715130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373080577	chr4:62712590-62712591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150805207	chr4:62712596-62712597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560045337	chr4:62712603-62712604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113539077	chr4:62712646-62712647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555410538	chr4:62712651-62712652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557247742	chr4:62712666-62712667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541634080	chr4:62712667-62712668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561796285	chr4:62712668-62712669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77168495	chr4:62712680-62712681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77500161	chr4:62712681-62712682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75460596	chr4:62712682-62712683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61558862	chr4:62712689-62712690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57914962	chr4:62712690-62712691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60708688	chr4:62712691-62712692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568566258	chr4:62712721-62712722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549372137	chr4:62712727-62712728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368277277	chr4:62712774-62712775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567952437	chr4:62712849-62712850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535832047	chr4:62712927-62712928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372797500	chr4:62712933-62712934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77582809	chr4:62712934-62712935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374563849	chr4:62712954-62712955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574377409	chr4:62712966-62712967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561406533	chr4:62713048-62713049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569292961	chr4:62713058-62713059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534903258	chr4:62713138-62713139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35510219	chr4:62713168-62713169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139514298	chr4:62713178-62713179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558436299	chr4:62713202-62713203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573346876	chr4:62713209-62713210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534450301	chr4:62713227-62713228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367845507	chr4:62713245-62713246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199811456	chr4:62713292-62713293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11731216	chr4:62713304-62713305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs370498838	chr4:62713322-62713323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562116790	chr4:62713323-62713324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577223750	chr4:62713324-62713325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367818428	chr4:62713325-62713326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567298348	chr4:62713329-62713330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199671578	chr4:62713330-62713331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11728318	chr4:62713352-62713353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372049439	chr4:62713353-62713354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373903930	chr4:62713361-62713362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377373468	chr4:62713362-62713363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572999320	chr4:62713371-62713372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370352586	chr4:62713438-62713439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573665229	chr4:62713440-62713441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28638398	chr4:62713458-62713459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377214996	chr4:62713467-62713468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186126903	chr4:62713479-62713480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
T-cell prolymphocytic leukemia	19278963	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
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62707800-62718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:62708400-62713800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:62708800-62718800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:62712400-62712600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:62712400-62712600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:62712600-62720600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:62714000-62714200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:62714200-62718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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