Variant report

Variant	nsv1010337
Chromosome Location	chr4:45570796-45626136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 500 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79229133	chr4:45581037-45581038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558421173	chr4:45581087-45581088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577098198	chr4:45581130-45581131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544374259	chr4:45581141-45581142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371938281	chr4:45581159-45581160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556288825	chr4:45581160-45581161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529918158	chr4:45581221-45581222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541909153	chr4:45581255-45581256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560294599	chr4:45581276-45581277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554517470	chr4:45581280-45581281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141391044	chr4:45581302-45581303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188700030	chr4:45581354-45581355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1684752	chr4:45581401-45581402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192707561	chr4:45581438-45581439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74289186	chr4:45581441-45581442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556285229	chr4:45581499-45581500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189495427	chr4:45581549-45581550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545832277	chr4:45581576-45581577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376983177	chr4:45581579-45581580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565877356	chr4:45581613-45581614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539432214	chr4:45581614-45581615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370963036	chr4:45581619-45581620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557895398	chr4:45581629-45581630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1684751	chr4:45581666-45581667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531718521	chr4:45581689-45581690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1684750	chr4:45581695-45581696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181968555	chr4:45581700-45581701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186510112	chr4:45581712-45581713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375702075	chr4:45581725-45581726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542084873	chr4:45581762-45581763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562559199	chr4:45581786-45581787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560271984	chr4:45581806-45581807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572196430	chr4:45581812-45581813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529871307	chr4:45581818-45581819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575039442	chr4:45581844-45581845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376577200	chr4:45581887-45581888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116368231	chr4:45581920-45581921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188990984	chr4:45581952-45581953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1672627	chr4:45581995-45581996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372134381	chr4:45581996-45581997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373914114	chr4:45582012-45582013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529438355	chr4:45582049-45582050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375173113	chr4:45582093-45582094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147012665	chr4:45582119-45582120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565815283	chr4:45582147-45582148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372702185	chr4:45582179-45582180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1672628	chr4:45582201-45582202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551870787	chr4:45582212-45582213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569912770	chr4:45582257-45582258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376427176	chr4:45582267-45582268	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45581000-45582800	Enhancers	Fetal Heart	heart
2	chr4:45582000-45582600	Enhancers	Fetal Lung	lung
3	chr4:45582400-45585200	Enhancers	Stomach Mucosa	stomach
4	chr4:45582800-45583200	Weak transcription	Fetal Heart	heart
5	chr4:45583200-45583600	Enhancers	Fetal Heart	heart
6	chr4:45602600-45603800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:45602600-45603800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:45603000-45603200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:45603000-45603400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:45603000-45603800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:45603400-45603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:45603400-45604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:45603600-45604200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:45603800-45604200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:45603800-45604200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:45603800-45604200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:45604200-45605000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:45604200-45605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:45604200-45605600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:45604200-45605800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:45604200-45607000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:45604400-45604600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:45604400-45605600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:45604600-45605200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:45605000-45605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:45605200-45605400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:45605400-45606600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:45605600-45605800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:45605600-45606600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:45606800-45607000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:45606800-45607000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:45620800-45622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:45621000-45622200	Enhancers	Hela-S3	cervix
34	chr4:45621400-45622800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:45621400-45624800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:45621400-45625000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:45621600-45622000	Enhancers	Colon Smooth Muscle	Colon
38	chr4:45621800-45622800	Enhancers	Rectal Smooth Muscle	rectum
39	chr4:45622200-45623200	Weak transcription	Hela-S3	cervix
40	chr4:45622800-45623200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:45623200-45625000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:45623200-45625000	Enhancers	Hela-S3	cervix
43	chr4:45624200-45624800	Enhancers	Fetal Intestine Small	intestine

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