Variant report

Variant	esv17447
Chromosome Location	chr2:234991345-234994872
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: 155 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373973323	chr2:234991367-234991368	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs536384334	chr2:234991410-234991411	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs190406299	chr2:234991416-234991417	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs552663734	chr2:234991428-234991429	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs532360972	chr2:234991447-234991448	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs77743342	chr2:234991454-234991455	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2215374	chr2:234991455-234991456	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541284025	chr2:234991470-234991471	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs115044407	chr2:234991474-234991475	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs250961	chr2:234991482-234991483	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554096049	chr2:234991483-234991484	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs567739193	chr2:234991484-234991485	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs543599726	chr2:234991502-234991503	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs13401466	chr2:234991518-234991519	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553866219	chr2:234991609-234991610	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs369810076	chr2:234991610-234991611	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs577345019	chr2:234991622-234991623	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs546424496	chr2:234991643-234991644	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs143648699	chr2:234991644-234991645	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs250960	chr2:234991650-234991651	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs542545810	chr2:234991651-234991652	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562037391	chr2:234991659-234991660	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs181305842	chr2:234991660-234991661	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs185986229	chr2:234991674-234991675	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs147186177	chr2:234991675-234991676	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs528506153	chr2:234991739-234991740	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs377531734	chr2:234991779-234991780	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs73996524	chr2:234991795-234991796	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115045565	chr2:234991852-234991853	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
30	rs552305852	chr2:234991867-234991868	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
31	rs568958784	chr2:234991873-234991874	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
32	rs78821686	chr2:234991876-234991877	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
33	rs62184264	chr2:234991877-234991878	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35931729	chr2:234991890-234991891	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533569997	chr2:234991901-234991902	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553583952	chr2:234991918-234991919	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs370894836	chr2:234991944-234991945	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs375675593	chr2:234991945-234991946	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs12617046	chr2:234991966-234991967	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs556672665	chr2:234991973-234991974	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs373681441	chr2:234991994-234991995	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs576733621	chr2:234992022-234992023	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs554340434	chr2:234992048-234992049	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs138239358	chr2:234992060-234992061	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs191940478	chr2:234992158-234992159	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
46	rs12617107	chr2:234992202-234992203	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
47	rs116940156	chr2:234992240-234992241	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
48	rs6715830	chr2:234992241-234992242	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541464416	chr2:234992286-234992287	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
50	rs139780743	chr2:234992329-234992330	Enhancers Weak transcription Bivalent Enhancer	lncRNA	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234987000-234991800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:234990400-234991600	Enhancers	Stomach Mucosa	stomach
3	chr2:234990400-234991600	Enhancers	HMEC	breast
4	chr2:234990400-234992200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:234990400-234993000	Enhancers	Pancreas	Pancrea
6	chr2:234990600-234991400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234990600-234991400	Enhancers	Fetal Lung	lung
8	chr2:234990600-234991400	Flanking Active TSS	A549	lung
9	chr2:234990600-234991600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:234990600-234991800	Enhancers	HepG2	liver
11	chr2:234990600-234992400	Enhancers	Fetal Kidney	kidney
12	chr2:234990600-234992600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:234990800-234991800	Weak transcription	Gastric	stomach
14	chr2:234991000-234992600	Enhancers	Liver	Liver
15	chr2:234991200-234992000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:234991400-234992000	Enhancers	A549	lung
17	chr2:234991400-234997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:234991600-234992800	Weak transcription	Stomach Mucosa	stomach
19	chr2:234991800-234992000	Bivalent Enhancer	HepG2	liver
20	chr2:234991800-234992600	Enhancers	Gastric	stomach
21	chr2:234991800-234992600	Enhancers	Spleen	Spleen
22	chr2:234991800-234993000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:234991800-234993000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:234991800-234993000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:234992000-234992200	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:234992000-235000000	Weak transcription	A549	lung
27	chr2:234992200-234993000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr2:234992400-234993000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:234992800-234993000	Enhancers	Stomach Mucosa	stomach
30	chr2:234993000-234999800	Weak transcription	Stomach Mucosa	stomach
31	chr2:234994200-234994600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links