Variant report

Variant	nsv980402
Chromosome Location	chr4:47225940-47257071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 517 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:517 , 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	rs537952346	chr4:47225945-47225946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555874097	chr4:47225969-47225970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372963295	chr4:47226014-47226015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140898362	chr4:47226088-47226089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573368865	chr4:47226115-47226116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535723261	chr4:47226126-47226127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376044925	chr4:47226141-47226142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572385528	chr4:47226155-47226156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1372498	chr4:47226204-47226205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565350271	chr4:47226283-47226284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532499419	chr4:47226305-47226306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577228614	chr4:47226315-47226316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140734951	chr4:47226318-47226319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561225673	chr4:47226333-47226334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1372499	chr4:47226436-47226437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73247676	chr4:47226441-47226442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530163785	chr4:47226471-47226472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149719173	chr4:47226473-47226474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528684402	chr4:47226491-47226492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527979052	chr4:47226509-47226510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544004318	chr4:47226533-47226534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552451879	chr4:47226581-47226582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571063549	chr4:47226592-47226593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180809301	chr4:47226645-47226646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73247677	chr4:47226691-47226692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567485176	chr4:47226734-47226735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147835394	chr4:47226742-47226743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187406043	chr4:47226744-47226745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547437369	chr4:47226799-47226800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79993221	chr4:47226800-47226801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371034766	chr4:47226830-47226831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192248998	chr4:47226915-47226916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534783718	chr4:47226933-47226934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183088025	chr4:47226943-47226944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185872603	chr4:47226948-47226949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11941884	chr4:47227005-47227006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556275163	chr4:47227016-47227017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574611172	chr4:47227043-47227044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57625430	chr4:47227065-47227066	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571274770	chr4:47227106-47227107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139156157	chr4:47227112-47227113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572637441	chr4:47227131-47227132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546757514	chr4:47227132-47227133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190376482	chr4:47227173-47227174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531966112	chr4:47227175-47227176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550411880	chr4:47227220-47227221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561737766	chr4:47227226-47227227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529001877	chr4:47227228-47227229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148924467	chr4:47227305-47227306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182573427	chr4:47227339-47227340	Enhancers Weak transcription	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
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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	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
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47214600-47226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:47224800-47226800	Weak transcription	Placenta	Placenta
3	chr4:47225600-47226000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:47226000-47229800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:47226600-47227400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:47226800-47227400	Enhancers	Placenta	Placenta
7	chr4:47229600-47229800	Enhancers	Placenta	Placenta
8	chr4:47229800-47230000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:47234400-47235000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:47235000-47238000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:47237200-47237800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:47238000-47238400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:47238400-47239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:47239800-47242600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:47240400-47243600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:47240400-47243600	Enhancers	Osteobl	bone
17	chr4:47240800-47242000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:47242000-47243200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:47242600-47243000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:47243000-47243400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:47243200-47243600	Enhancers	Fetal Kidney	kidney
22	chr4:47243400-47243600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:47243600-47243800	Enhancers	Brain Angular Gyrus	brain
24	chr4:47253000-47253600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:47253200-47254000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:47253400-47254000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:47253400-47254000	Enhancers	Brain Anterior Caudate	brain
28	chr4:47253600-47253800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:47253600-47254000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:47253600-47254000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:47253600-47254000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:47253600-47254000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:47253800-47254400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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