Variant report

Variant	esv32718
Chromosome Location	chr2:30918546-30926192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30919828..30920458-chr2:30929884..30930509,2	MCF-7	breast:
2	chr2:30453286..30455237-chr2:30919266..30921018,2	K562	blood:
3	chr2:30409571..30411186-chr2:30923671..30925648,2	K562	blood:
4	chr2:30883644..30885923-chr2:30925471..30927610,3	K562	blood:
5	chr2:30923468..30926529-chr2:30927694..30930292,3	MCF-7	breast:
6	chr2:30369468..30371289-chr2:30921681..30924676,2	K562	blood:
7	chr2:30911934..30915196-chr2:30916414..30919357,3	K562	blood:
8	chr2:30884077..30886953-chr2:30917137..30920248,5	K562	blood:
9	chr2:30883186..30885923-chr2:30925471..30927270,4	K562	blood:
10	chr2:30884077..30887138-chr2:30917799..30920248,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCLAT1-1	chr2:30916445-30920389	XLOC_001413

No data

Variant related genes	Relation type
ENSG00000119801	chromatin interactions
ENSG00000207187	chromatin interactions
ENSG00000213626	chromatin interactions

Extended variants
information (count: 308 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538697577	chr2:30918608-30918609	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553896796	chr2:30918686-30918687	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs555643452	chr2:30918724-30918725	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34134148	chr2:30918740-30918741	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181029475	chr2:30918772-30918773	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs497707	chr2:30918773-30918774	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs75765075	chr2:30918776-30918777	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs147844508	chr2:30918796-30918797	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs514940	chr2:30918839-30918840	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545600149	chr2:30918843-30918844	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs559270359	chr2:30918910-30918911	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs185377170	chr2:30918913-30918914	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs143418255	chr2:30918938-30918939	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs377627407	chr2:30918997-30918998	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562011197	chr2:30919001-30919002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs370289301	chr2:30919015-30919016	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs371029815	chr2:30919027-30919028	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs375959458	chr2:30919044-30919045	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs113589785	chr2:30919054-30919055	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs567075038	chr2:30919059-30919060	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs544431426	chr2:30919060-30919061	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs564402858	chr2:30919116-30919117	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs533437590	chr2:30919145-30919146	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs546787721	chr2:30919207-30919208	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs566481785	chr2:30919208-30919209	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs529293334	chr2:30919212-30919213	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs549255150	chr2:30919220-30919221	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs569241922	chr2:30919246-30919247	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs80069100	chr2:30919248-30919249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs536948968	chr2:30919249-30919250	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs558287350	chr2:30919320-30919321	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs79522369	chr2:30919354-30919355	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs371667952	chr2:30919362-30919363	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs80269435	chr2:30919477-30919478	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs113415360	chr2:30919496-30919497	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs75267316	chr2:30919505-30919506	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs368958107	chr2:30919512-30919513	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs540872812	chr2:30919517-30919518	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs72865461	chr2:30919582-30919583	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541889116	chr2:30919588-30919589	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs182752153	chr2:30919598-30919599	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs34411027	chr2:30919608-30919609	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs574913642	chr2:30919627-30919628	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs575639070	chr2:30919677-30919678	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs544201975	chr2:30919695-30919696	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs564273247	chr2:30919702-30919703	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs532985187	chr2:30919718-30919719	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs540718465	chr2:30919727-30919728	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs560253987	chr2:30919771-30919772	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs139087863	chr2:30919786-30919787	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30916800-30918600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:30917200-30918600	Enhancers	Fetal Heart	heart
4	chr2:30917400-30920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:30918600-30925000	Weak transcription	Fetal Heart	heart
6	chr2:30920400-30920800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:30923600-30926200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:30924800-30925600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:30924800-30925600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr2:30925000-30925400	Active TSS	Fetal Heart	heart
11	chr2:30925400-30926800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:30925400-30927200	Weak transcription	Fetal Heart	heart
13	chr2:30925600-30926400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:30925600-30926800	Enhancers	Monocytes-CD14+_RO01746	blood

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