Variant report

Variant	esv3692766
Chromosome Location	chr2:234992912-234994887
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	chr2:234990278..234993062-chr2:234998550..235000154,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPP2-4	chr2:234990903-234993134	NONHSAT077525

Extended variants
information (count: 83 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs250958	chr2:234992912-234992913	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375713337	chr2:234992918-234992919	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs541669418	chr2:234992942-234992943	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34899794	chr2:234992949-234992950	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs561548397	chr2:234992956-234992957	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs74521210	chr2:234992971-234992972	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs250957	chr2:234992975-234992976	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs563089178	chr2:234992997-234992998	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs574198357	chr2:234993029-234993030	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs74417926	chr2:234993034-234993035	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs374477753	chr2:234993070-234993071	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs535456521	chr2:234993077-234993078	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555671434	chr2:234993106-234993107	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569817130	chr2:234993114-234993115	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs79861495	chr2:234993153-234993154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542707900	chr2:234993240-234993241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535549951	chr2:234993285-234993286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7581053	chr2:234993308-234993309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs374574320	chr2:234993324-234993325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528636025	chr2:234993340-234993341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535299627	chr2:234993342-234993343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80185452	chr2:234993383-234993384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577954891	chr2:234993409-234993410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537091132	chr2:234993432-234993433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35152337	chr2:234993434-234993435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376566227	chr2:234993465-234993466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573751014	chr2:234993466-234993467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530806961	chr2:234993472-234993473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73996526	chr2:234993476-234993477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190776373	chr2:234993507-234993508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567304828	chr2:234993509-234993510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs250956	chr2:234993563-234993564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs146646033	chr2:234993618-234993619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140164227	chr2:234993630-234993631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35726528	chr2:234993666-234993667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs72978247	chr2:234993678-234993679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376140822	chr2:234993681-234993682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563284543	chr2:234993761-234993762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528964390	chr2:234993780-234993781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34037988	chr2:234993781-234993782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549123505	chr2:234993784-234993785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566243621	chr2:234993796-234993797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182342302	chr2:234993804-234993805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143399870	chr2:234993805-234993806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10208647	chr2:234993844-234993845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10205710	chr2:234993846-234993847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369508190	chr2:234993907-234993908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537751947	chr2:234993919-234993920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556895115	chr2:234993920-234993921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567337237	chr2:234993944-234993945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234990400-234993000	Enhancers	Pancreas	Pancrea
2	chr2:234991400-234997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:234991800-234993000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:234991800-234993000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:234991800-234993000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:234992000-235000000	Weak transcription	A549	lung
7	chr2:234992200-234993000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr2:234992400-234993000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:234992800-234993000	Enhancers	Stomach Mucosa	stomach
10	chr2:234993000-234999800	Weak transcription	Stomach Mucosa	stomach
11	chr2:234994200-234994600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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