Variant report

Variant	esv3508692
Chromosome Location	chr4:794093-794604
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	chr4:775968..777707-chr4:794357..796914,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532695087	chr4:794145-794146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533641895	chr4:794160-794161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369805021	chr4:794187-794188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183481080	chr4:794193-794194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563633851	chr4:794219-794220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551513696	chr4:794229-794230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549545961	chr4:794241-794242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9998158	chr4:794243-794244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs62294152	chr4:794258-794259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140915315	chr4:794266-794267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546744631	chr4:794279-794280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62294153	chr4:794293-794294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188237358	chr4:794299-794300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192802757	chr4:794300-794301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568557521	chr4:794301-794302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535821794	chr4:794303-794304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554404273	chr4:794325-794326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35588893	chr4:794332-794333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35443412	chr4:794333-794334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71166894	chr4:794334-794335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376946309	chr4:794336-794337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572863460	chr4:794339-794340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35182041	chr4:794352-794353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566362704	chr4:794353-794354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574318322	chr4:794354-794355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200980530	chr4:794367-794368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376587568	chr4:794368-794369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373228306	chr4:794370-794371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553486311	chr4:794378-794379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578252488	chr4:794403-794404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545758539	chr4:794432-794433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563970054	chr4:794503-794504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200021525	chr4:794513-794514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201031809	chr4:794521-794522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201869692	chr4:794522-794523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71640360	chr4:794523-794524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200810153	chr4:794524-794525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201851719	chr4:794526-794527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199950575	chr4:794528-794529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71166895	chr4:794538-794539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34898018	chr4:794541-794542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60050126	chr4:794542-794543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11724278	chr4:794564-794565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs561247168	chr4:794565-794566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549304773	chr4:794570-794571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376378891	chr4:794595-794596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
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
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
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:789400-795200	Weak transcription	Brain Anterior Caudate	brain
2	chr4:789600-816800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:791200-795400	Weak transcription	Pancreas	Pancrea
4	chr4:792200-794200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:792200-795200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:792400-794200	Enhancers	Fetal Thymus	thymus
7	chr4:793000-795400	Weak transcription	Fetal Brain Female	brain
8	chr4:793400-795400	Weak transcription	HepG2	liver
9	chr4:793400-798600	Weak transcription	HMEC	breast
10	chr4:793800-798600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:794600-795200	Weak transcription	Esophagus	oesophagus

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