Variant report

Variant	esv20466
Chromosome Location	chr4:10725729-10726215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550163666	chr4:10725742-10725743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142257301	chr4:10725781-10725782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7654347	chr4:10725823-10725824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577912055	chr4:10725844-10725845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192229607	chr4:10725866-10725867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553737310	chr4:10725872-10725873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372123050	chr4:10725896-10725897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571659369	chr4:10725898-10725899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542334450	chr4:10725932-10725933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7678509	chr4:10725935-10725936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs151251810	chr4:10725942-10725943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184236037	chr4:10725998-10725999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116046223	chr4:10726013-10726014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562937898	chr4:10726043-10726044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386671659	chr4:10726059-10726060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7678879	chr4:10726074-10726075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560491692	chr4:10726077-10726078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556557833	chr4:10726106-10726107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10640484	chr4:10726107-10726108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397952783	chr4:10726117-10726118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199834207	chr4:10726118-10726119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118100737	chr4:10726119-10726120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57512271	chr4:10726124-10726125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7683890	chr4:10726125-10726126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs76575035	chr4:10726139-10726140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140475674	chr4:10726158-10726159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571312339	chr4:10726161-10726162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28522128	chr4:10726199-10726200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553754636	chr4:10726208-10726209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368838170	chr4:10726213-10726214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10719000-10726200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:10722000-10725800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:10723600-10725800	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:10724200-10725800	Enhancers	Fetal Thymus	thymus
5	chr4:10724200-10728400	Weak transcription	Primary T cells from cord blood	blood
6	chr4:10725200-10726000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:10725200-10733000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:10725400-10726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:10725400-10728200	Weak transcription	GM12878-XiMat	blood
10	chr4:10725400-10729000	Weak transcription	Primary B cells from cord blood	blood
11	chr4:10725600-10726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:10725800-10726000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:10725800-10726200	Weak transcription	Fetal Thymus	thymus
14	chr4:10725800-10728400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:10726000-10747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:10726200-10726800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:10726200-10726800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:10726200-10726800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:10726200-10728800	Enhancers	Fetal Thymus	thymus

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