Variant report

Variant	esv3459843
Chromosome Location	chr2:152873414-152874026
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	chr2:152873226..152875848-chr2:152876435..152878853,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377087902	chr2:152873427-152873428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147552540	chr2:152873436-152873437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192023510	chr2:152873453-152873454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6728019	chr2:152873469-152873470	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2709765	chr2:152873513-152873514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2709764	chr2:152873536-152873537	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539021183	chr2:152873548-152873549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541525032	chr2:152873563-152873564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555013485	chr2:152873605-152873606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572321400	chr2:152873654-152873655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556766141	chr2:152873677-152873678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541597125	chr2:152873719-152873720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182397384	chr2:152873744-152873745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533672243	chr2:152873766-152873767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543494353	chr2:152873771-152873772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372488865	chr2:152873786-152873787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563682637	chr2:152873808-152873809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529258488	chr2:152873831-152873832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574287497	chr2:152873850-152873851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185726676	chr2:152873871-152873872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553830086	chr2:152873950-152873951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559854084	chr2:152873960-152873961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2139420	chr2:152873976-152873977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12693207	chr2:152873992-152873993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12477734	chr2:152873993-152873994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2139421	chr2:152873994-152873995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs62175070	chr2:152874002-152874003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375870042	chr2:152874011-152874012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5835401	chr2:152874022-152874023	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
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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152867800-152881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:152872000-152873800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:152872000-152873800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:152872200-152873600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:152872200-152873800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:152872400-152873600	Enhancers	Fetal Brain Female	brain
7	chr2:152872400-152882200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:152873200-152878800	Weak transcription	Fetal Brain Male	brain
9	chr2:152873400-152873800	Enhancers	HepG2	liver
10	chr2:152873400-152878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:152873800-152875400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:152873800-152876600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:152873800-152878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:152873800-152878600	Weak transcription	HepG2	liver

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