Variant report

Variant	nsv967794
Chromosome Location	chr4:129033277-129035591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129035426..129037558-chr4:129040093..129043006,2	MCF-7	breast:
2	chr4:129035080..129036906-chr4:129038349..129040371,2	K562	blood:
3	chr4:129029150..129031424-chr4:129033425..129035573,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36086605	chr4:129033310-129033311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535613990	chr4:129033390-129033391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554049028	chr4:129033456-129033457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560789455	chr4:129033464-129033465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149194089	chr4:129033485-129033486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34444504	chr4:129033499-129033500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187750343	chr4:129033560-129033561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116407304	chr4:129033603-129033604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557494646	chr4:129033720-129033721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575983463	chr4:129033776-129033777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377527003	chr4:129033782-129033783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543192328	chr4:129033786-129033787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145130357	chr4:129033872-129033873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573882225	chr4:129033881-129033882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541198406	chr4:129033956-129033957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559699933	chr4:129034000-129034001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549680248	chr4:129034009-129034010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139013242	chr4:129034011-129034012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192620854	chr4:129034029-129034030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564372889	chr4:129034071-129034072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140731748	chr4:129034092-129034093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530120333	chr4:129034114-129034115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369519101	chr4:129034116-129034117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116058717	chr4:129034187-129034188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1870686	chr4:129034241-129034242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140335584	chr4:129034246-129034247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571661989	chr4:129034250-129034251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35636574	chr4:129034373-129034374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6534664	chr4:129034464-129034465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566239545	chr4:129034475-129034476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115355916	chr4:129034477-129034478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558416409	chr4:129034508-129034509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575956011	chr4:129034511-129034512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13146738	chr4:129034525-129034526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555522166	chr4:129034543-129034544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4834233	chr4:129034640-129034641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541110777	chr4:129034687-129034688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556449120	chr4:129034707-129034708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559312921	chr4:129034724-129034725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145227627	chr4:129034773-129034774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12505002	chr4:129034787-129034788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs367617120	chr4:129034840-129034841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189318175	chr4:129034894-129034895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545333931	chr4:129034898-129034899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114855865	chr4:129034907-129034908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564941733	chr4:129034914-129034915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180951026	chr4:129034977-129034978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529384159	chr4:129035002-129035003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184690370	chr4:129035006-129035007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571699888	chr4:129035024-129035025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
2	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
3	chr4:128984200-129035200	Weak transcription	NHLF	lung
4	chr4:128992800-129038400	Weak transcription	Thymus	Thymus
5	chr4:128994200-129066400	Weak transcription	Brain Angular Gyrus	brain
6	chr4:128995600-129035800	Weak transcription	Hela-S3	cervix
7	chr4:128997000-129036800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:128997000-129054200	Weak transcription	Right Ventricle	heart
9	chr4:128997400-129037400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:129000200-129066600	Weak transcription	Colonic Mucosa	Colon
11	chr4:129003600-129078800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:129003800-129035200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:129003800-129047800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:129003800-129056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:129003800-129066400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:129007800-129076400	Weak transcription	Gastric	stomach
17	chr4:129014400-129034200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:129014400-129051400	Weak transcription	Fetal Kidney	kidney
19	chr4:129014400-129066600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:129016600-129048200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:129018800-129034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:129018800-129083400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:129019600-129045600	Weak transcription	HSMMtube	muscle
24	chr4:129020200-129051600	Weak transcription	Psoas Muscle	Psoas
25	chr4:129020400-129076600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:129020400-129076600	Weak transcription	Pancreas	Pancrea
27	chr4:129020600-129045200	Weak transcription	Fetal Thymus	thymus
28	chr4:129020800-129066600	Weak transcription	Primary T cells from cord blood	blood
29	chr4:129021000-129043800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:129021400-129076400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:129021600-129044000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:129021600-129046800	Weak transcription	Fetal Brain Female	brain
33	chr4:129021800-129038600	Weak transcription	Lung	lung
34	chr4:129021800-129051600	Weak transcription	NHEK	skin
35	chr4:129022400-129066400	Weak transcription	Left Ventricle	heart
36	chr4:129023200-129062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:129024000-129035200	Weak transcription	NHDF-Ad	bronchial
38	chr4:129024800-129066600	Weak transcription	HSMM	muscle
39	chr4:129025800-129056200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:129025800-129066600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:129026000-129062800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:129026000-129066400	Weak transcription	Aorta	Aorta
43	chr4:129026600-129045200	Weak transcription	Fetal Intestine Large	intestine
44	chr4:129026600-129055400	Weak transcription	NH-A	brain
45	chr4:129026600-129066400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:129026600-129066600	Weak transcription	Fetal Lung	lung
47	chr4:129026800-129043600	Weak transcription	Ovary	ovary
48	chr4:129029400-129066200	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:129029600-129042000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:129029600-129047800	Weak transcription	H1 Cell Line	embryonic stem cell

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