Variant report

Variant	nsv2971
Chromosome Location	chr2:151725801-151770425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
2	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
3	chr10:5933821..5935712-chr2:151735859..151737363,2	K562	blood:
4	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
5	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
6	chr2:151768362..151769212-chr2:151907879..151908719,2	MCF-7	breast:

Extended variants
information (count: 1664 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374853099	chr2:151725818-151725819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs369252550	chr2:151725823-151725824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34519894	chr2:151725914-151725915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563697414	chr2:151726001-151726002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570418217	chr2:151726026-151726027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148154958	chr2:151726040-151726041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570539516	chr2:151726050-151726051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76713102	chr2:151726143-151726144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73967467	chr2:151726162-151726163	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141742578	chr2:151726179-151726180	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543745736	chr2:151726290-151726291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563415228	chr2:151726301-151726302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13004017	chr2:151726326-151726327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs17177861	chr2:151726388-151726389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12619871	chr2:151726402-151726403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs193129311	chr2:151726442-151726443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535664070	chr2:151726451-151726452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373156503	chr2:151726538-151726539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557150797	chr2:151726544-151726545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376306919	chr2:151726574-151726575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4664193	chr2:151726615-151726616	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571711424	chr2:151726634-151726635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142015234	chr2:151726722-151726723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12614419	chr2:151726724-151726725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs185628313	chr2:151726776-151726777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530665547	chr2:151726872-151726873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567826659	chr2:151726891-151726892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536871219	chr2:151726912-151726913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553100903	chr2:151726934-151726935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150703986	chr2:151726956-151726957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115657032	chr2:151726957-151726958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12467192	chr2:151726959-151726960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577245900	chr2:151727002-151727003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543037091	chr2:151727021-151727022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149920814	chr2:151727034-151727035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139876141	chr2:151727047-151727048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551864591	chr2:151727170-151727171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370479609	chr2:151727180-151727181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573825996	chr2:151727186-151727187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542811528	chr2:151727208-151727209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375065031	chr2:151727226-151727227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559551977	chr2:151727237-151727238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188538212	chr2:151727252-151727253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13394733	chr2:151727272-151727273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551954009	chr2:151727297-151727298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193157425	chr2:151727300-151727301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184196408	chr2:151727316-151727317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541387222	chr2:151727320-151727321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550670045	chr2:151727341-151727342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560016911	chr2:151727366-151727367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151717000-151729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:151720600-151728400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:151722000-151726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:151725600-151726000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:151725600-151726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:151725600-151726600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:151725800-151726200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:151725800-151726200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:151725800-151726800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:151726000-151726400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:151726000-151727600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:151726000-151727800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:151726200-151727200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:151726200-151729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:151726400-151726600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:151726400-151728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:151726600-151727000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:151726600-151727200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:151726800-151728400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:151726800-151728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:151726800-151729000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:151727200-151728200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:151727200-151728600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:151727400-151727800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:151727600-151728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:151727800-151728200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:151727800-151728200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:151728200-151732600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:151728200-151733600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:151728200-151733800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:151728400-151728800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:151728400-151729000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:151728400-151729200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:151728400-151729800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:151728400-151732200	Enhancers	Fetal Stomach	stomach
36	chr2:151728400-151733400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:151728400-151734400	Enhancers	Fetal Lung	lung
38	chr2:151728600-151728800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:151728600-151733400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:151728600-151733600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:151728600-151733800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:151728800-151729400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:151728800-151729800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:151728800-151730800	Enhancers	Dnd41	blood
45	chr2:151729000-151729200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:151729000-151729600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:151729000-151730000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:151729000-151730000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:151729000-151730200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:151729000-151730200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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