Variant report

Variant	nsv878807
Chromosome Location	chr4:30437096-30508931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 633 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190235421	chr4:30443022-30443023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10005073	chr4:30443023-30443024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569985871	chr4:30443034-30443035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547153634	chr4:30443104-30443105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182693489	chr4:30443105-30443106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558566172	chr4:30443106-30443107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536366520	chr4:30443113-30443114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570606894	chr4:30443143-30443144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534817682	chr4:30443160-30443161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75697133	chr4:30443172-30443173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535973543	chr4:30444462-30444463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550879604	chr4:30444469-30444470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75228231	chr4:30444522-30444523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191484699	chr4:30444542-30444543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540108134	chr4:30444547-30444548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558492160	chr4:30444553-30444554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184006301	chr4:30444565-30444566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534313475	chr4:30444644-30444645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190097295	chr4:30444663-30444664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150088847	chr4:30444672-30444673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574425181	chr4:30444677-30444678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144684174	chr4:30444753-30444754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138348902	chr4:30444785-30444786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575100496	chr4:30444800-30444801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545654062	chr4:30444871-30444872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10028787	chr4:30444898-30444899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61795376	chr4:30444958-30444959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546656844	chr4:30444965-30444966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192865418	chr4:30444995-30444996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73215068	chr4:30445017-30445018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534629036	chr4:30445033-30445034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551077233	chr4:30445044-30445045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368252409	chr4:30445045-30445046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147396012	chr4:30445091-30445092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552043960	chr4:30445169-30445170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554722323	chr4:30445177-30445178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10029075	chr4:30445187-30445188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574295622	chr4:30445208-30445209	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534533024	chr4:30445248-30445249	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs572874557	chr4:30445252-30445253	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536307586	chr4:30445266-30445267	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141750396	chr4:30445288-30445289	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185438429	chr4:30445296-30445297	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190355467	chr4:30445303-30445304	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372244091	chr4:30445319-30445320	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150588996	chr4:30445352-30445353	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557559309	chr4:30445372-30445373	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs139660662	chr4:30445408-30445409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576006364	chr4:30445445-30445446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540536867	chr4:30445523-30445524	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
Cancer	21183584	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
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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30443000-30443200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:30444400-30445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:30444400-30445400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:30444400-30445600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:30444400-30445600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:30444600-30445200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:30444600-30445400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:30444600-30445600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:30444600-30445600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:30444800-30445200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:30444800-30445400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:30444800-30445400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:30444800-30445400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:30444800-30445400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:30444800-30445600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:30445000-30445400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:30445000-30445400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:30445000-30445400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:30445000-30445400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:30445200-30445400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:30445400-30445600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:30451800-30452400	Enhancers	Fetal Lung	lung
23	chr4:30458200-30458600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:30460600-30460800	Enhancers	GM12878-XiMat	blood
25	chr4:30460800-30461800	Weak transcription	GM12878-XiMat	blood
26	chr4:30461800-30462000	Enhancers	GM12878-XiMat	blood
27	chr4:30461800-30463000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:30462000-30462600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:30462000-30463000	Flanking Active TSS	GM12878-XiMat	blood
30	chr4:30462000-30463600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:30462000-30463800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:30462000-30464200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:30462200-30462400	Enhancers	Fetal Lung	lung
34	chr4:30462200-30462800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:30462200-30462800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:30462200-30463000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:30462200-30463200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:30462200-30464000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:30462400-30463200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:30462400-30463600	Weak transcription	Fetal Lung	lung
41	chr4:30462600-30463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:30462800-30463000	Enhancers	Hela-S3	cervix
43	chr4:30463000-30463600	Enhancers	GM12878-XiMat	blood
44	chr4:30463600-30463800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:30463600-30464000	Enhancers	Fetal Lung	lung
46	chr4:30463600-30464400	ZNF genes & repeats	GM12878-XiMat	blood
47	chr4:30464000-30464200	Flanking Active TSS	Fetal Lung	lung
48	chr4:30464200-30464600	Active TSS	Fetal Lung	lung
49	chr4:30464600-30465000	Flanking Active TSS	Fetal Lung	lung
50	chr4:30465000-30466000	Enhancers	Fetal Lung	lung

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