Variant report

Variant	nsv437909
Chromosome Location	chr4:10126978-10128146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10124769..10127534-chr4:10135159..10136966,2	MCF-7	breast:
2	chr4:10124578..10127302-chr4:10186119..10188725,2	K562	blood:
3	chr4:10126622..10128433-chr4:10132503..10134257,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4619888	chr4:10126978-10126979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545762487	chr4:10126985-10126986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564816453	chr4:10126989-10126990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375126450	chr4:10127008-10127009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369643940	chr4:10127009-10127010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140671113	chr4:10127021-10127022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187165132	chr4:10127032-10127033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529499487	chr4:10127035-10127036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191669913	chr4:10127039-10127040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182216209	chr4:10127044-10127045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548229526	chr4:10127048-10127049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533340696	chr4:10127076-10127077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372824091	chr4:10127082-10127083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551689961	chr4:10127090-10127091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539457194	chr4:10127110-10127111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77567194	chr4:10127118-10127119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372776238	chr4:10127122-10127123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4467562	chr4:10127141-10127142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs143787555	chr4:10127144-10127145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151115799	chr4:10127195-10127196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573511197	chr4:10127202-10127203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186504966	chr4:10127212-10127213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557054772	chr4:10127214-10127215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10516203	chr4:10127231-10127232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141113201	chr4:10127254-10127255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150189401	chr4:10127272-10127273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573184916	chr4:10127273-10127274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193116199	chr4:10127281-10127282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185582168	chr4:10127282-10127283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11724184	chr4:10127301-10127302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs367781577	chr4:10127307-10127308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551162687	chr4:10127313-10127314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371565481	chr4:10127315-10127316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190307921	chr4:10127316-10127317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139053580	chr4:10127323-10127324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551456326	chr4:10127324-10127325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193191804	chr4:10127330-10127331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200993173	chr4:10127351-10127352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185120093	chr4:10127352-10127353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533742115	chr4:10127366-10127367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143059242	chr4:10127367-10127368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188851016	chr4:10127380-10127381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147064356	chr4:10127381-10127382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376302052	chr4:10127385-10127386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577393917	chr4:10127402-10127403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539592738	chr4:10127408-10127409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534986941	chr4:10127414-10127415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181080685	chr4:10127427-10127428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573163942	chr4:10127435-10127436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10001106	chr4:10127441-10127442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:54)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10120000-10127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:10120600-10127400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr4:10120800-10127400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr4:10121800-10127400	Enhancers	Dnd41	blood
5	chr4:10123400-10127800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr4:10124400-10127000	Enhancers	Fetal Muscle Leg	muscle
7	chr4:10124600-10128200	Enhancers	Right Ventricle	heart
8	chr4:10125200-10128400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:10125600-10127000	Enhancers	HUVEC	blood vessel
10	chr4:10125800-10128600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:10125800-10129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:10125800-10130000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:10125800-10130400	Weak transcription	HSMMtube	muscle
14	chr4:10126000-10127600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:10126000-10130200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:10126000-10130200	Weak transcription	Hela-S3	cervix
17	chr4:10126000-10131400	Weak transcription	Fetal Lung	lung
18	chr4:10126200-10130600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:10126200-10130800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:10126400-10127200	Weak transcription	Left Ventricle	heart
21	chr4:10126400-10128800	Weak transcription	Placenta	Placenta
22	chr4:10126400-10130200	Weak transcription	HSMM	muscle
23	chr4:10126600-10131000	Weak transcription	Adipose Nuclei	Adipose
24	chr4:10126600-10131000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:10126600-10131000	Weak transcription	Right Atrium	heart
26	chr4:10126600-10131600	Weak transcription	Spleen	Spleen
27	chr4:10126800-10128600	Enhancers	Fetal Heart	heart
28	chr4:10127000-10130400	Weak transcription	HUVEC	blood vessel
29	chr4:10127000-10130600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:10127200-10128000	Enhancers	Left Ventricle	heart
31	chr4:10128000-10131000	Weak transcription	Left Ventricle	heart

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