Variant report

Variant	nsv593807
Chromosome Location	chr4:21562013-21575623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 529 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13119355	chr4:21562013-21562014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184599355	chr4:21562028-21562029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559979797	chr4:21562035-21562036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554715989	chr4:21562051-21562052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79319533	chr4:21562061-21562062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551412577	chr4:21562161-21562162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543694855	chr4:21562164-21562165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188624782	chr4:21562177-21562178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80256994	chr4:21562240-21562241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549096978	chr4:21562249-21562250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17482780	chr4:21562372-21562373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs358840	chr4:21562391-21562392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs559163853	chr4:21562531-21562532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546608094	chr4:21562535-21562536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571541770	chr4:21562561-21562562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377551258	chr4:21562631-21562632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35617608	chr4:21562715-21562716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553764542	chr4:21562724-21562725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538510061	chr4:21562732-21562733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557737152	chr4:21562779-21562780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575980101	chr4:21562831-21562832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528162654	chr4:21562900-21562901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371030969	chr4:21562903-21562904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139005812	chr4:21562904-21562905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574185731	chr4:21562908-21562909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541567128	chr4:21562990-21562991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573591549	chr4:21562992-21562993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142286267	chr4:21563004-21563005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12642593	chr4:21563006-21563007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531053718	chr4:21563019-21563020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578252806	chr4:21563040-21563041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375211932	chr4:21563136-21563137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376762384	chr4:21563161-21563162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563321047	chr4:21563176-21563177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530513307	chr4:21563200-21563201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6833891	chr4:21563202-21563203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561018662	chr4:21563216-21563217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570844081	chr4:21563242-21563243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528149423	chr4:21563291-21563292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546787263	chr4:21563300-21563301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374132668	chr4:21563311-21563312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574211527	chr4:21563337-21563338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6811766	chr4:21563351-21563352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550454339	chr4:21563352-21563353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563047652	chr4:21563455-21563456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375387276	chr4:21563468-21563469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555607229	chr4:21563483-21563484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567767161	chr4:21563488-21563489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534769944	chr4:21563508-21563509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546942912	chr4:21563523-21563524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21554800-21566200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:21560800-21571000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:21566200-21566800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:21570200-21570600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:21570400-21571200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:21570600-21571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:21570600-21571600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:21570600-21571800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:21570800-21571800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:21571000-21571400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:21571200-21571600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:21571200-21571800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:21571200-21571800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:21571400-21577600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:21571600-21572600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:21571600-21575400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:21571800-21573000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:21572600-21573400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:21573000-21573200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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