Variant report

Variant	nsv980206
Chromosome Location	chr4:62639183-62641506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17292009	chr4:62639224-62639225	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567277717	chr4:62639231-62639232	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531353290	chr4:62639293-62639294	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372004784	chr4:62639298-62639299	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556542683	chr4:62639330-62639331	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577900720	chr4:62639355-62639356	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs377655289	chr4:62639368-62639369	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558990331	chr4:62639373-62639374	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545221566	chr4:62639418-62639419	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370832876	chr4:62639422-62639423	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191952128	chr4:62639450-62639451	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373763571	chr4:62639463-62639464	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540380885	chr4:62639489-62639490	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561700535	chr4:62639525-62639526	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs77285144	chr4:62639712-62639713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544495925	chr4:62639731-62639732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567978107	chr4:62639751-62639752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562879774	chr4:62639797-62639798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182958577	chr4:62639841-62639842	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35069177	chr4:62639844-62639845	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551926361	chr4:62639856-62639857	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566969979	chr4:62639873-62639874	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559736187	chr4:62639922-62639923	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564932172	chr4:62640006-62640007	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372436258	chr4:62640076-62640077	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534824550	chr4:62640124-62640125	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs527336295	chr4:62640137-62640138	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548806099	chr4:62640178-62640179	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185008130	chr4:62640206-62640207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10000772	chr4:62640214-62640215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371289458	chr4:62640266-62640267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148790048	chr4:62640295-62640296	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190156816	chr4:62640325-62640326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182426375	chr4:62640353-62640354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538578910	chr4:62640358-62640359	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553898153	chr4:62640404-62640405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552127881	chr4:62640432-62640433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572150281	chr4:62640516-62640517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540718598	chr4:62640529-62640530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566856107	chr4:62640536-62640537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555481703	chr4:62640567-62640568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573683787	chr4:62640671-62640672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142466085	chr4:62640688-62640689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562566539	chr4:62640749-62640750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371517866	chr4:62640799-62640800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79136687	chr4:62640835-62640836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73823232	chr4:62640879-62640880	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs151333100	chr4:62640906-62640907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549088640	chr4:62640920-62640921	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs79349334	chr4:62640940-62640941	Weak transcription Enhancers Flanking Active TSS	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62635800-62639600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:62636400-62639800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:62636800-62639600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:62636800-62639600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:62636800-62640800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:62637000-62639800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:62637000-62640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:62637000-62641000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:62637600-62641200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:62637600-62656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:62637800-62639400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:62638000-62640600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:62638800-62639400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:62639000-62639600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:62639000-62639600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:62639400-62639600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:62639400-62639800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:62639600-62639800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr4:62639600-62639800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:62639600-62639800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:62639600-62640000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:62639600-62640400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:62639800-62640200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr4:62639800-62640200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:62639800-62640600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:62639800-62640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:62640000-62640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:62640000-62641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:62640200-62640400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:62640200-62640400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:62640400-62640800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:62640400-62641000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:62640400-62641600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:62640600-62640800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:62640600-62641000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:62640600-62641200	Enhancers	Fetal Brain Male	brain
37	chr4:62640800-62641000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr4:62641000-62641200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:62641000-62641600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr4:62641000-62654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:62641200-62641400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr4:62641200-62641600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:62641200-62643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:62641200-62645600	Weak transcription	Fetal Brain Male	brain
45	chr4:62641400-62645800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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