Variant report

Variant	nsv980463
Chromosome Location	chr4:106294684-106304254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106303580..106305490-chr4:106308147..106310732,2	K562	blood:
2	chr4:106303580..106305518-chr4:106307519..106309647,2	K562	blood:

Extended variants
information (count: 294 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574799736	chr4:106294699-106294700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11932472	chr4:106294728-106294729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577883871	chr4:106294748-106294749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2636693	chr4:106294756-106294757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs369677333	chr4:106294792-106294793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7695564	chr4:106294848-106294849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184550309	chr4:106294883-106294884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549062275	chr4:106294912-106294913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147339993	chr4:106294923-106294924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398051240	chr4:106294924-106294925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62328809	chr4:106294927-106294928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565787353	chr4:106294952-106294953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56111171	chr4:106294953-106294954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189420654	chr4:106295055-106295056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558439281	chr4:106295156-106295157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578248178	chr4:106295287-106295288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374447133	chr4:106295369-106295370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537380368	chr4:106295380-106295381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557303194	chr4:106295386-106295387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573924597	chr4:106295454-106295455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543024132	chr4:106295455-106295456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553010555	chr4:106295459-106295460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114038603	chr4:106295528-106295529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373780623	chr4:106295535-106295536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76085166	chr4:106295554-106295555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377490524	chr4:106295580-106295581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563973548	chr4:106295655-106295656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55998107	chr4:106295703-106295704	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543321387	chr4:106295725-106295726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532917409	chr4:106295751-106295752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563614339	chr4:106295817-106295818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576236349	chr4:106295832-106295833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182257763	chr4:106295839-106295840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2636694	chr4:106295847-106295848	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs528237212	chr4:106295886-106295887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115986574	chr4:106295936-106295937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140864792	chr4:106295949-106295950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113643997	chr4:106296008-106296009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555590740	chr4:106296009-106296010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377243001	chr4:106296015-106296016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543675404	chr4:106296034-106296035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2636695	chr4:106296085-106296086	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533704255	chr4:106296094-106296095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115398240	chr4:106296095-106296096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551614883	chr4:106296124-106296125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186175255	chr4:106296222-106296223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189222418	chr4:106296240-106296241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181573125	chr4:106296241-106296242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371147184	chr4:106296282-106296283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558645294	chr4:106296335-106296336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106253800-106343000	Weak transcription	Psoas Muscle	Psoas
2	chr4:106272800-106304000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:106274400-106326800	Weak transcription	Small Intestine	intestine
4	chr4:106274800-106330400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:106275800-106307800	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:106278600-106307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:106279000-106339600	Weak transcription	HSMMtube	muscle
8	chr4:106279000-106347400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:106280000-106344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:106281000-106326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:106282600-106316800	Weak transcription	Fetal Heart	heart
12	chr4:106282600-106325800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:106282600-106335600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:106283600-106330000	Weak transcription	Right Ventricle	heart
15	chr4:106285000-106326000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:106286600-106295400	Weak transcription	Hela-S3	cervix
17	chr4:106287000-106320800	Weak transcription	NH-A	brain
18	chr4:106287000-106335800	Weak transcription	Colonic Mucosa	Colon
19	chr4:106287600-106304000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:106287600-106304800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:106287600-106335600	Weak transcription	Esophagus	oesophagus
22	chr4:106287600-106357000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:106287800-106303800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:106287800-106303800	Weak transcription	Fetal Stomach	stomach
25	chr4:106287800-106304000	Weak transcription	Ovary	ovary
26	chr4:106287800-106306000	Weak transcription	Placenta	Placenta
27	chr4:106287800-106318600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:106287800-106320000	Weak transcription	A549	lung
29	chr4:106287800-106326800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:106287800-106330200	Weak transcription	Gastric	stomach
31	chr4:106287800-106335400	Weak transcription	Spleen	Spleen
32	chr4:106287800-106335800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:106287800-106347600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:106288400-106297200	Weak transcription	HMEC	breast
35	chr4:106288400-106306000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:106288400-106318600	Weak transcription	Aorta	Aorta
37	chr4:106288400-106330200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:106288400-106330200	Weak transcription	Lung	lung
39	chr4:106288600-106304000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:106288600-106325600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:106288600-106335400	Weak transcription	Thymus	Thymus
42	chr4:106288800-106303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:106288800-106320600	Weak transcription	NHEK	skin
44	chr4:106288800-106325600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:106289200-106325600	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:106289400-106316800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:106289600-106335400	Weak transcription	Brain Anterior Caudate	brain
48	chr4:106290000-106306000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:106290000-106347400	Weak transcription	Fetal Kidney	kidney
50	chr4:106290200-106295400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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