Variant report

Variant	nsv582253
Chromosome Location	chr2:77326832-77374780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1195 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3820749	chr2:77326832-77326833	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201189724	chr2:77326891-77326892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531991252	chr2:77326930-77326931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532656964	chr2:77326965-77326966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185446927	chr2:77326983-77326984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3841857	chr2:77327015-77327016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559723571	chr2:77327049-77327050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530296413	chr2:77327061-77327062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545927685	chr2:77327062-77327063	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548741237	chr2:77327106-77327107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570159943	chr2:77327109-77327110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564043549	chr2:77327125-77327126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191377740	chr2:77327165-77327166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576109629	chr2:77327173-77327174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567711489	chr2:77327186-77327187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543699769	chr2:77327245-77327246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570741891	chr2:77327270-77327271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139522289	chr2:77327282-77327283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553210774	chr2:77327294-77327295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568197613	chr2:77327316-77327317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116019776	chr2:77327342-77327343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535632991	chr2:77327394-77327395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556688243	chr2:77327471-77327472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183586193	chr2:77327488-77327489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535626758	chr2:77327527-77327528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557301534	chr2:77327546-77327547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572774035	chr2:77327556-77327557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541393109	chr2:77327562-77327563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375575733	chr2:77327569-77327570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559982965	chr2:77327585-77327586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545345509	chr2:77327604-77327605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542395163	chr2:77327643-77327644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374985558	chr2:77327654-77327655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186921160	chr2:77327678-77327679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34682108	chr2:77327790-77327791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2218569	chr2:77327798-77327799	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552627382	chr2:77327799-77327800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546237691	chr2:77327817-77327818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191944928	chr2:77327865-77327866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570786342	chr2:77327874-77327875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72911826	chr2:77327947-77327948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201580188	chr2:77327972-77327973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36002343	chr2:77327991-77327992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11126588	chr2:77328054-77328055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568343478	chr2:77328099-77328100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535274865	chr2:77328137-77328138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556700476	chr2:77328159-77328160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568628591	chr2:77328161-77328162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113645513	chr2:77328170-77328171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557817049	chr2:77328177-77328178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77318000-77329200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:77318200-77328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:77320200-77329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:77321600-77329200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:77323000-77341200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:77323200-77327600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:77323200-77327800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:77323200-77328600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:77323200-77329000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:77323600-77329400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:77324200-77328600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:77324600-77327000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:77325400-77327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:77325600-77340400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:77326400-77328400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:77327000-77327200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:77327200-77327400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:77327400-77327600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:77327600-77328800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:77327600-77331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:77327600-77341000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:77327800-77329200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:77328400-77328600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:77328400-77329800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:77328600-77328800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:77328600-77328800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:77328600-77329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:77328800-77329200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:77328800-77329400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:77328800-77329400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:77329000-77329200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:77329000-77329200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:77329000-77329400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:77329000-77329600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:77329000-77329600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:77329200-77329400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:77329200-77329600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:77329200-77329600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:77329200-77329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:77329400-77329600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:77329400-77329800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:77329400-77331200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:77329600-77330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:77329600-77331200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:77329600-77331400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:77329600-77340600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:77329800-77331600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:77329800-77339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:77330200-77330400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:77330400-77341200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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