Variant report

Variant	nsv595734
Chromosome Location	chr4:152935555-152992741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152939022..152940789-chr4:152944064..152945576,2	K562	blood:
2	chr4:152939022..152940789-chr4:152944064..152945576,2	K562	blood:
3	chr4:152966128..152968026-chr4:152970722..152972855,2	K562	blood:
4	chr4:152938213..152941320-chr4:152942977..152945564,4	K562	blood:
5	chr4:152966128..152968026-chr4:152970722..152972855,2	K562	blood:
6	chr4:152938213..152941320-chr4:152942977..152945564,4	K562	blood:

Extended variants
information (count: 2166 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2166 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4696124	chr4:152935555-152935556	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149028180	chr4:152935582-152935583	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114730133	chr4:152935586-152935587	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116647550	chr4:152935587-152935588	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574607612	chr4:152935590-152935591	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541799077	chr4:152935591-152935592	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554340728	chr4:152935604-152935605	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553813611	chr4:152935619-152935620	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143205234	chr4:152935723-152935724	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144072201	chr4:152935740-152935741	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571987451	chr4:152935747-152935748	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146670865	chr4:152935783-152935784	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186881016	chr4:152935813-152935814	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191719060	chr4:152935842-152935843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140272404	chr4:152935878-152935879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549227716	chr4:152936009-152936010	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79713334	chr4:152936018-152936019	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534577824	chr4:152936020-152936021	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553239129	chr4:152936046-152936047	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529353504	chr4:152936078-152936079	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145348313	chr4:152936083-152936084	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12509941	chr4:152936084-152936085	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114545661	chr4:152936142-152936143	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182047649	chr4:152936143-152936144	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370330973	chr4:152936160-152936161	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372975833	chr4:152936199-152936200	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186815257	chr4:152936203-152936204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537626604	chr4:152936229-152936230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112661852	chr4:152936255-152936256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77855538	chr4:152936256-152936257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535537418	chr4:152936319-152936320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140849855	chr4:152936321-152936322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571990928	chr4:152936339-152936340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563222445	chr4:152936346-152936347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150166099	chr4:152936384-152936385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76415769	chr4:152936385-152936386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557822927	chr4:152936389-152936390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17028386	chr4:152936424-152936425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138663255	chr4:152936427-152936428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561534708	chr4:152936532-152936533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201044465	chr4:152936543-152936544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56787638	chr4:152936547-152936548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62321493	chr4:152936548-152936549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573545172	chr4:152936557-152936558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541106283	chr4:152936569-152936570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377169636	chr4:152936630-152936631	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142982482	chr4:152936635-152936636	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551508897	chr4:152936656-152936657	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563960958	chr4:152936660-152936661	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17028387	chr4:152936693-152936694	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152929600-152936600	Enhancers	Fetal Thymus	thymus
2	chr4:152932000-152942000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:152932200-152939600	Weak transcription	Fetal Heart	heart
4	chr4:152932200-152942000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:152934400-152936800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr4:152934600-152936400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:152934800-152936000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:152934800-152936200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:152934800-152936200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:152934800-152936400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:152934800-152936400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:152934800-152936800	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:152935000-152936200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:152935000-152936400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:152935000-152936400	Enhancers	Thymus	Thymus
16	chr4:152935000-152936400	Enhancers	Dnd41	blood
17	chr4:152935200-152935600	Enhancers	Primary B cells from cord blood	blood
18	chr4:152935200-152935600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:152935200-152935600	Enhancers	Brain Anterior Caudate	brain
20	chr4:152935200-152936000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:152935200-152936000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:152935200-152936200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:152935200-152936200	Enhancers	Primary T cells from cord blood	blood
24	chr4:152935200-152936200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr4:152935200-152936200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr4:152935200-152936200	Flanking Active TSS	GM12878-XiMat	blood
27	chr4:152935200-152936400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:152935200-152936400	Enhancers	Spleen	Spleen
29	chr4:152935600-152935800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr4:152935600-152935800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:152935600-152936200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:152935600-152936600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:152935800-152936000	Enhancers	Primary B cells from cord blood	blood
34	chr4:152936000-152936200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr4:152936200-152936400	Enhancers	Primary B cells from cord blood	blood
36	chr4:152936200-152937000	Enhancers	GM12878-XiMat	blood
37	chr4:152936400-152938200	Enhancers	Fetal Brain Male	brain
38	chr4:152936600-152936800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:152936600-152937400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:152936600-152940600	Weak transcription	Fetal Thymus	thymus
41	chr4:152936800-152937000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:152937000-152938800	Weak transcription	GM12878-XiMat	blood
43	chr4:152937000-152942400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:152937400-152941600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:152937600-152937800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:152937800-152944400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:152938200-152943000	Weak transcription	Fetal Brain Male	brain
48	chr4:152938800-152939200	Enhancers	GM12878-XiMat	blood
49	chr4:152939200-152940800	Weak transcription	GM12878-XiMat	blood
50	chr4:152939600-152939800	Enhancers	Fetal Heart	heart

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