Variant report

Variant	nsv964246
Chromosome Location	chr4:20565331-20567828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576780735	chr4:20565399-20565400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116806500	chr4:20565415-20565416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553562317	chr4:20565417-20565418	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74990208	chr4:20565463-20565464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544296334	chr4:20565591-20565592	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540161823	chr4:20565592-20565593	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541590424	chr4:20565646-20565647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574656335	chr4:20565658-20565659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542051558	chr4:20565734-20565735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs504754	chr4:20565744-20565745	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527828309	chr4:20565796-20565797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552534462	chr4:20565803-20565804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564283846	chr4:20565820-20565821	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143835614	chr4:20565827-20565828	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550576001	chr4:20565844-20565845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs506358	chr4:20565861-20565862	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536437450	chr4:20565879-20565880	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146390942	chr4:20565953-20565954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566561196	chr4:20565985-20565986	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544642209	chr4:20566043-20566044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533609074	chr4:20566080-20566081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558620958	chr4:20566195-20566196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192942143	chr4:20566260-20566261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565160569	chr4:20566262-20566263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564314831	chr4:20566295-20566296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574820677	chr4:20566297-20566298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533326235	chr4:20566397-20566398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201359290	chr4:20566407-20566408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542016673	chr4:20566412-20566413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397841185	chr4:20566418-20566419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547323262	chr4:20566457-20566458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532992	chr4:20566498-20566499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143116626	chr4:20566541-20566542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545931320	chr4:20566568-20566569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183909216	chr4:20566571-20566572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531575180	chr4:20566576-20566577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145467329	chr4:20566579-20566580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188819865	chr4:20566599-20566600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530055919	chr4:20566600-20566601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548510288	chr4:20566602-20566603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570577013	chr4:20566603-20566604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566620321	chr4:20566611-20566612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532568244	chr4:20566678-20566679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568192174	chr4:20566705-20566706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10030354	chr4:20566766-20566767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148841909	chr4:20566832-20566833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537420631	chr4:20566840-20566841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10030439	chr4:20566860-20566861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs1870260	chr4:20566866-20566867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535710514	chr4:20566912-20566913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:20553600-20565400	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
15	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:20555400-20569200	Weak transcription	Osteobl	bone
17	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:20558600-20567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:20559400-20568200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:20560000-20567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:20561000-20567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:20561000-20568600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:20561400-20567800	Weak transcription	NHDF-Ad	bronchial
27	chr4:20563200-20566800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:20565200-20566000	Strong transcription	Fetal Lung	lung
29	chr4:20565400-20566000	Enhancers	Colon Smooth Muscle	Colon
30	chr4:20566000-20566400	Weak transcription	Fetal Lung	lung
31	chr4:20566000-20569000	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:20566400-20567200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:20566400-20567200	Enhancers	Fetal Lung	lung
34	chr4:20566600-20567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:20566600-20567000	Enhancers	HMEC	breast
36	chr4:20566800-20567000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:20566800-20567000	Enhancers	NHEK	skin
38	chr4:20566800-20567200	Enhancers	Rectal Smooth Muscle	rectum
39	chr4:20566800-20567400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:20567000-20574200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:20567000-20581800	Weak transcription	NHEK	skin
42	chr4:20567000-20604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:20567200-20567600	Weak transcription	Fetal Lung	lung
44	chr4:20567200-20605200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:20567200-20617000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:20567400-20572800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:20567600-20572400	Strong transcription	Fetal Lung	lung
48	chr4:20567800-20574800	Strong transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links