Variant report

Variant	esv2762336
Chromosome Location	chr3:70516421-70527712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 268 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374592369	chr3:70519801-70519802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75642548	chr3:70519814-70519815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76760923	chr3:70519815-70519816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377428378	chr3:70519817-70519818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530875990	chr3:70519846-70519847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529585073	chr3:70519875-70519876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187548632	chr3:70519921-70519922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192025523	chr3:70519922-70519923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546391401	chr3:70519943-70519944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566594603	chr3:70519952-70519953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140128861	chr3:70519974-70519975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552196606	chr3:70519979-70519980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568502452	chr3:70519980-70519981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549057305	chr3:70520012-70520013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568518435	chr3:70520021-70520022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147751881	chr3:70520106-70520107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371227142	chr3:70520128-70520129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557185318	chr3:70520130-70520131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557447357	chr3:70520262-70520263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534780827	chr3:70520373-70520374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184258710	chr3:70520429-70520430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17007269	chr3:70520439-70520440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573317687	chr3:70520490-70520491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375542755	chr3:70520524-70520525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545170212	chr3:70520529-70520530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188787451	chr3:70520531-70520532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549666819	chr3:70520560-70520561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368238815	chr3:70520584-70520585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142653952	chr3:70520595-70520596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561130065	chr3:70520610-70520611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143219061	chr3:70520632-70520633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540447483	chr3:70520664-70520665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72951046	chr3:70520691-70520692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532274215	chr3:70520701-70520702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181229223	chr3:70520704-70520705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568516405	chr3:70520718-70520719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539224748	chr3:70520722-70520723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531179976	chr3:70520727-70520728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569484506	chr3:70520728-70520729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372176060	chr3:70520731-70520732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184667040	chr3:70520817-70520818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188981432	chr3:70520845-70520846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553570238	chr3:70520864-70520865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12494424	chr3:70520917-70520918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11128176	chr3:70520943-70520944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537824991	chr3:70521059-70521060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151250154	chr3:70521071-70521072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17007274	chr3:70521097-70521098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554989309	chr3:70521109-70521110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113269097	chr3:70521154-70521155	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70519800-70520600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:70520000-70521800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:70520200-70521400	Enhancers	HSMMtube	muscle
4	chr3:70520400-70521200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:70520600-70521200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:70521200-70521600	Enhancers	Aorta	Aorta
7	chr3:70521200-70524600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:70524200-70524800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:70524200-70525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:70524200-70525600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:70524200-70526400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:70524400-70524800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:70524400-70525600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:70524400-70526400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:70524600-70526000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:70524800-70526000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:70524800-70526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:70525000-70525600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:70525600-70525800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:70525600-70525800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr3:70525800-70526400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:70526000-70526400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr3:70526200-70526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:70526200-70526600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:70526400-70526600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:70526600-70527000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:70526600-70527600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links