Variant report

Variant	nsv869890
Chromosome Location	chr4:93551923-93599587
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	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:
2	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:

Extended variants
information (count: 2067 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2067 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181097180	chr4:93551941-93551942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12503574	chr4:93552056-93552057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573124515	chr4:93552060-93552061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542152326	chr4:93552120-93552121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145239902	chr4:93552131-93552132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575440570	chr4:93552154-93552155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368571146	chr4:93552166-93552167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186456303	chr4:93552171-93552172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76911059	chr4:93552176-93552177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71579572	chr4:93552177-93552178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564240365	chr4:93552180-93552181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532900544	chr4:93552184-93552185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546142066	chr4:93552211-93552212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559727652	chr4:93552231-93552232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189707438	chr4:93552310-93552311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549314290	chr4:93552311-93552312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569332691	chr4:93552337-93552338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180810451	chr4:93552353-93552354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62307958	chr4:93552373-93552374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375261487	chr4:93552502-93552503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571689277	chr4:93552505-93552506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80060738	chr4:93552509-93552510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2870640	chr4:93552532-93552533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535743170	chr4:93552595-93552596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555726356	chr4:93552640-93552641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367914528	chr4:93552651-93552652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185427107	chr4:93552704-93552705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562235359	chr4:93552719-93552720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529525320	chr4:93552730-93552731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78819482	chr4:93552761-93552762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539980121	chr4:93552768-93552769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559716085	chr4:93552779-93552780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528886021	chr4:93552798-93552799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549252735	chr4:93552804-93552805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372186297	chr4:93552805-93552806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79168848	chr4:93552851-93552852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148537751	chr4:93552979-93552980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551906245	chr4:93552983-93552984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536265865	chr4:93552999-93553000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375449876	chr4:93553024-93553025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62307959	chr4:93553176-93553177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs921355	chr4:93553252-93553253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs62309160	chr4:93553261-93553262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567641524	chr4:93553273-93553274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191025465	chr4:93553278-93553279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184066354	chr4:93553284-93553285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17019712	chr4:93553317-93553318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570125613	chr4:93553356-93553357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537752824	chr4:93553372-93553373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370240405	chr4:93553377-93553378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
lymphocytic leukemia	21291569	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93547000-93555200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:93550000-93574800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:93551200-93552400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:93551600-93552000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:93551800-93553400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:93551800-93553800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:93551800-93554400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:93551800-93556200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:93552000-93579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:93552400-93553600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:93553400-93553600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:93553400-93553800	Weak transcription	Fetal Brain Male	brain
13	chr4:93553600-93553800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:93553600-93554000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:93553800-93554000	Enhancers	Fetal Brain Male	brain
16	chr4:93553800-93554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:93553800-93554400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:93553800-93554800	Enhancers	Brain Germinal Matrix	brain
19	chr4:93554000-93554400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:93554000-93556000	Weak transcription	Fetal Brain Male	brain
21	chr4:93554200-93554400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:93554400-93554600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:93554400-93570400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:93554600-93556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:93554800-93555200	Weak transcription	Brain Germinal Matrix	brain
26	chr4:93555200-93556200	Enhancers	Brain Germinal Matrix	brain
27	chr4:93555200-93559200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:93555400-93555600	Enhancers	Brain Substantia Nigra	brain
29	chr4:93555400-93555800	Enhancers	Brain Angular Gyrus	brain
30	chr4:93555400-93556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:93555400-93557200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr4:93555600-93555800	Enhancers	Fetal Brain Female	brain
33	chr4:93555600-93556000	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:93555800-93556200	Weak transcription	Brain Angular Gyrus	brain
35	chr4:93555800-93557400	Weak transcription	Brain Substantia Nigra	brain
36	chr4:93556000-93556400	Active TSS	Brain Anterior Caudate	brain
37	chr4:93556000-93556600	Active TSS	Brain Cingulate Gyrus	brain
38	chr4:93556000-93556600	Enhancers	Fetal Brain Male	brain
39	chr4:93556200-93556400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:93556200-93556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:93556200-93556400	Enhancers	Brain Angular Gyrus	brain
42	chr4:93556200-93556800	Weak transcription	Fetal Brain Female	brain
43	chr4:93556200-93557200	Weak transcription	Brain Germinal Matrix	brain
44	chr4:93556400-93556800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:93556400-93557200	Weak transcription	Brain Angular Gyrus	brain
46	chr4:93556400-93557400	Weak transcription	Brain Anterior Caudate	brain
47	chr4:93556600-93557200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:93556600-93557200	Weak transcription	Fetal Brain Male	brain
49	chr4:93556800-93559200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:93557000-93558000	Enhancers	Fetal Brain Female	brain

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