Variant report

Variant	nsv1008307
Chromosome Location	chr2:77174354-77197565
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	chr2:77179669..77181456-chr2:77188236..77191117,3	K562	blood:
2	chr2:77179669..77181456-chr2:77188236..77191117,3	K562	blood:

Extended variants
information (count: 484 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10204605	chr2:77174354-77174355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554016105	chr2:77174362-77174363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185592649	chr2:77174371-77174372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147109941	chr2:77174374-77174375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10192262	chr2:77174412-77174413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs542376465	chr2:77174416-77174417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560914563	chr2:77174439-77174440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575987716	chr2:77174449-77174450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62170338	chr2:77174451-77174452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371604013	chr2:77174475-77174476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562890340	chr2:77174481-77174482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571912917	chr2:77174502-77174503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533447388	chr2:77174508-77174509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539540963	chr2:77174520-77174521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551520531	chr2:77174545-77174546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560330545	chr2:77174555-77174556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140048911	chr2:77174556-77174557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549239152	chr2:77174578-77174579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149608948	chr2:77174583-77174584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190302918	chr2:77174621-77174622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182888520	chr2:77174663-77174664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571522734	chr2:77174708-77174709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538947758	chr2:77174752-77174753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372572688	chr2:77174776-77174777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565763087	chr2:77174782-77174783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537973359	chr2:77174836-77174837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10205089	chr2:77174845-77174846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs143981833	chr2:77174875-77174876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116658657	chr2:77174876-77174877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556350040	chr2:77174880-77174881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543002573	chr2:77174886-77174887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558140178	chr2:77174894-77174895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577883240	chr2:77174920-77174921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72823111	chr2:77174923-77174924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543770510	chr2:77174966-77174967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562078909	chr2:77174998-77174999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527915797	chr2:77175004-77175005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543100016	chr2:77175029-77175030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574341981	chr2:77175038-77175039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374178977	chr2:77175049-77175050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531837752	chr2:77175065-77175066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188672621	chr2:77175143-77175144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193095093	chr2:77175176-77175177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532424190	chr2:77175194-77175195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547746049	chr2:77175228-77175229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565857724	chr2:77175245-77175246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184212619	chr2:77175253-77175254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554752697	chr2:77175259-77175260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539211784	chr2:77175294-77175295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569609544	chr2:77175349-77175350	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77172200-77174600	Enhancers	Fetal Lung	lung
2	chr2:77174000-77175600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:77176200-77176800	Enhancers	Fetal Heart	heart
4	chr2:77180400-77180600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:77180400-77181600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:77180400-77182800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:77180400-77183000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:77180600-77181000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:77180600-77183000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:77180800-77181600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:77180800-77181600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:77180800-77181800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:77181600-77182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:77181600-77182600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:77181600-77185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:77182000-77182200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:77182000-77182400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:77182200-77186800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:77182600-77183000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:77182600-77183000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:77183000-77185600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:77183000-77185800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:77183000-77186200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:77185600-77186800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:77185600-77187400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:77185800-77186800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:77186200-77186800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:77186600-77187000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:77186800-77187000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:77193000-77193400	Active TSS	Liver	Liver
31	chr2:77193000-77193600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:77193000-77193800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:77193000-77193800	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links