Variant report

Variant	nsv524535
Chromosome Location	chr2:77310597-77344652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1695 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1695 , 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	rs1921734	chr2:77310597-77310598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539897677	chr2:77310604-77310605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557879177	chr2:77310607-77310608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566826571	chr2:77310622-77310623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180902558	chr2:77310631-77310632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184578903	chr2:77310657-77310658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555660763	chr2:77310668-77310669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573581563	chr2:77310673-77310674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141491807	chr2:77310700-77310701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188828319	chr2:77310711-77310712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113256275	chr2:77310767-77310768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71420987	chr2:77310768-77310769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555934213	chr2:77310787-77310788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577322039	chr2:77310802-77310803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145228735	chr2:77310805-77310806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544663573	chr2:77310823-77310824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147624564	chr2:77310846-77310847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559907217	chr2:77310863-77310864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142411036	chr2:77310888-77310889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527311580	chr2:77310890-77310891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538107221	chr2:77310920-77310921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55933843	chr2:77310921-77310922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199592525	chr2:77310927-77310928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113253833	chr2:77310932-77310933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200518120	chr2:77310933-77310934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386390525	chr2:77310945-77310946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28507555	chr2:77310948-77310949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12999736	chr2:77310951-77310952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564081486	chr2:77310952-77310953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542243575	chr2:77310962-77310963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562446287	chr2:77310965-77310966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374960304	chr2:77310970-77310971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529609939	chr2:77310982-77310983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551201932	chr2:77310994-77310995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372811393	chr2:77311002-77311003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11892068	chr2:77311046-77311047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186191036	chr2:77311055-77311056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551825873	chr2:77311062-77311063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113687760	chr2:77311075-77311076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530546173	chr2:77311081-77311082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376411219	chr2:77311098-77311099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376166857	chr2:77311111-77311112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13005086	chr2:77311117-77311118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181975016	chr2:77311121-77311122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555464270	chr2:77311122-77311123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187570671	chr2:77311182-77311183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75584036	chr2:77311256-77311257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369006962	chr2:77311287-77311288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577381941	chr2:77311308-77311309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544797340	chr2:77311309-77311310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77300000-77311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77308200-77311600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:77308200-77312800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:77308400-77311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:77308600-77311400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:77310400-77313200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:77311200-77311600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:77311400-77311600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:77311400-77314200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:77311600-77311800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:77311600-77312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:77311600-77312600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:77311600-77313200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:77311600-77313600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:77311600-77315000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:77311800-77312000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:77311800-77312000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:77311800-77312800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:77312000-77312600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:77312000-77313000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:77312200-77312600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:77312600-77313800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:77312600-77314000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:77312600-77314000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:77312800-77313000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:77312800-77313000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:77312800-77314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:77312800-77314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:77313000-77314000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:77313000-77315000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:77313200-77314800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:77313200-77315000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:77313200-77315400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:77313600-77315400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:77313800-77314800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr2:77313800-77315800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:77314000-77314200	Enhancers	Fetal Lung	lung
38	chr2:77314000-77314400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:77314000-77314400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr2:77314000-77314800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:77314000-77314800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr2:77314000-77315200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:77314200-77314400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:77314200-77314800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:77314200-77315000	Weak transcription	Fetal Lung	lung
46	chr2:77314200-77315200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:77314200-77315400	Enhancers	Liver	Liver
48	chr2:77314400-77314800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:77314400-77321200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:77314800-77315000	Enhancers	H1 Cell Line	embryonic stem cell

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