Variant report

Variant	nsv293338
Chromosome Location	chr4:48321787-48328404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48270033..48272126-chr4:48328140..48330927,2	K562	blood:
2	chr4:48322582..48327982-chr4:48329571..48333922,4	K562	blood:
3	chr4:48317545..48320000-chr4:48323485..48325753,2	K562	blood:
4	chr4:48321470..48323955-chr4:48341055..48342680,2	K562	blood:
5	chr4:48322582..48325559-chr4:48331467..48333922,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542515625	chr4:48323022-48323023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535585191	chr4:48323056-48323057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184832798	chr4:48323083-48323084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs36022046	chr4:48323262-48323263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146585065	chr4:48323268-48323269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528120839	chr4:48323300-48323301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112049779	chr4:48323321-48323322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540210226	chr4:48323351-48323352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11946788	chr4:48323357-48323358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114670390	chr4:48323385-48323386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572368425	chr4:48323413-48323414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534081227	chr4:48323431-48323432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373306706	chr4:48323473-48323474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552023397	chr4:48323483-48323484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528725632	chr4:48324427-48324428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546611186	chr4:48324442-48324443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540395134	chr4:48324453-48324454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140720468	chr4:48324456-48324457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550708039	chr4:48324470-48324471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150472203	chr4:48324529-48324530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536089914	chr4:48324538-48324539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560071823	chr4:48324549-48324550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527323223	chr4:48324581-48324582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145402662	chr4:48324592-48324593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372255233	chr4:48324594-48324595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573073693	chr4:48324621-48324622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149204603	chr4:48324622-48324623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558597620	chr4:48324625-48324626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181412976	chr4:48324715-48324716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143330629	chr4:48324734-48324735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186505292	chr4:48324766-48324767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574458692	chr4:48324769-48324770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs309882	chr4:48324826-48324827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190477158	chr4:48324917-48324918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528764357	chr4:48324936-48324937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138739136	chr4:48324944-48324945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565233808	chr4:48325053-48325054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182974701	chr4:48325054-48325055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550936239	chr4:48325089-48325090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141199507	chr4:48325101-48325102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191787298	chr4:48325140-48325141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530177967	chr4:48325156-48325157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548084328	chr4:48325178-48325179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199811706	chr4:48325227-48325228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34975506	chr4:48325228-48325229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71191205	chr4:48325229-48325230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397993287	chr4:48325246-48325247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566627044	chr4:48325295-48325296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186188826	chr4:48325316-48325317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558941736	chr4:48325324-48325325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48323000-48323400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:48323000-48323600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:48324400-48324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:48324400-48325200	Enhancers	Placenta	Placenta
5	chr4:48324400-48326800	Enhancers	K562	blood
6	chr4:48324800-48325200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:48324800-48325200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:48324800-48325200	Enhancers	Right Atrium	heart
9	chr4:48324800-48325600	Enhancers	HUVEC	blood vessel
10	chr4:48324800-48331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:48325200-48334200	Weak transcription	Placenta	Placenta
12	chr4:48326800-48331200	Weak transcription	K562	blood
13	chr4:48327600-48331200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:48328200-48329800	Weak transcription	HSMMtube	muscle

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