Variant report

Variant	esv1800554
Chromosome Location	chr2:145664185-145675768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145662568..145665486-chr2:145667581..145669789,3	K562	blood:
2	chr2:145672621..145674786-chr2:145681190..145683817,2	K562	blood:
3	chr2:145662568..145665486-chr2:145667581..145669789,3	K562	blood:
4	chr2:145675431..145677342-chr2:145678479..145680168,2	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558853890	chr2:145664257-145664258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539236288	chr2:145664261-145664262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372533803	chr2:145664345-145664346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77787445	chr2:145664352-145664353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576404209	chr2:145664356-145664357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185067527	chr2:145664368-145664369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4416159	chr2:145664377-145664378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112189146	chr2:145664383-145664384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536903844	chr2:145664393-145664394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188234820	chr2:145668879-145668880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10928234	chr2:145668906-145668907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547004419	chr2:145668911-145668912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201008774	chr2:145668987-145668988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529515494	chr2:145669075-145669076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568019863	chr2:145669118-145669119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541028457	chr2:145669122-145669123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75706763	chr2:145669168-145669169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73963988	chr2:145669175-145669176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563951465	chr2:145669211-145669212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386651404	chr2:145669217-145669218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75272531	chr2:145669297-145669298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147777104	chr2:145669314-145669315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141192249	chr2:145669330-145669331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549969970	chr2:145669334-145669335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568388691	chr2:145669340-145669341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535705707	chr2:145669344-145669345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553842086	chr2:145669346-145669347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565664686	chr2:145669404-145669405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539183362	chr2:145669452-145669453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557819071	chr2:145669504-145669505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557053842	chr2:145669549-145669550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146959395	chr2:145669563-145669564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576020718	chr2:145669583-145669584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374820797	chr2:145669589-145669590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543629864	chr2:145669593-145669594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180735614	chr2:145669606-145669607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555491884	chr2:145669678-145669679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574005563	chr2:145669695-145669696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541317144	chr2:145669714-145669715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559535646	chr2:145669731-145669732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533338257	chr2:145669734-145669735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138247125	chr2:145669755-145669756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186588538	chr2:145669826-145669827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530999694	chr2:145669832-145669833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550006050	chr2:145669874-145669875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530470117	chr2:145669907-145669908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546268566	chr2:145670055-145670056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561853300	chr2:145670072-145670073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113688025	chr2:145670076-145670077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529249631	chr2:145670098-145670099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145661600-145664400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:145668800-145695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:145671800-145673600	Enhancers	Dnd41	blood
4	chr2:145672000-145672400	Enhancers	Ovary	ovary
5	chr2:145672000-145672400	Enhancers	HMEC	breast
6	chr2:145672000-145672800	Enhancers	NHDF-Ad	bronchial
7	chr2:145672000-145673000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:145672000-145673000	Enhancers	HSMM	muscle
9	chr2:145672200-145672800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:145672400-145672800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:145672400-145672800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:145672400-145673000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:145672600-145673000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:145672600-145673000	Enhancers	Fetal Kidney	kidney
15	chr2:145672600-145673000	Enhancers	Fetal Lung	lung

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