Variant report

Variant	esv3442964
Chromosome Location	chr4:3721240-3721705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3717339..3719373-chr4:3721279..3722918,2	MCF-7	breast:
2	chr4:3720745..3724824-chr4:3727644..3730429,3	K562	blood:
3	chr4:3720840..3724300-chr4:3724381..3726602,3	MCF-7	breast:
4	chr4:3719651..3722174-chr4:3722524..3724517,2	K562	blood:
5	chr4:3715270..3718190-chr4:3721526..3723393,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2748770	chr4:3721251-3721252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7377501	chr4:3721269-3721270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs114744869	chr4:3721286-3721287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7375509	chr4:3721299-3721300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs558871529	chr4:3721300-3721301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139550823	chr4:3721314-3721315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74971822	chr4:3721339-3721340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568204069	chr4:3721355-3721356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149303463	chr4:3721403-3721404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375909213	chr4:3721408-3721409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545038146	chr4:3721409-3721410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560330454	chr4:3721419-3721420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74456571	chr4:3721437-3721438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546115043	chr4:3721453-3721454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185633377	chr4:3721459-3721460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58187538	chr4:3721460-3721461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190493349	chr4:3721499-3721500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386670773	chr4:3721511-3721512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2748769	chr4:3721521-3721522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200875520	chr4:3721527-3721528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75851937	chr4:3721584-3721585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527802259	chr4:3721585-3721586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116010143	chr4:3721605-3721606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547833848	chr4:3721613-3721614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566703436	chr4:3721618-3721619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538835648	chr4:3721633-3721634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3717600-3722400	Weak transcription	Fetal Kidney	kidney
2	chr4:3720400-3722800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3721400-3722400	Weak transcription	H9 Cell Line	embryonic stem cell

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