Variant report

Variant	esv3421324
Chromosome Location	chr2:30517948-30522246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALK-2	chr2:30519159-30519327	XLOC_002040

Variant related genes	Relation type
GRB2	miRNA target sites

Extended variants
information (count: 188 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs558122172	chr2:30517954-30517955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570474695	chr2:30517972-30517973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144225967	chr2:30518023-30518024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74929818	chr2:30518024-30518025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11692818	chr2:30518030-30518031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375490860	chr2:30518041-30518042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34966017	chr2:30518050-30518051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541917513	chr2:30518088-30518089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146571334	chr2:30518141-30518142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182010751	chr2:30518156-30518157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186561261	chr2:30518157-30518158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375234741	chr2:30518189-30518190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34209298	chr2:30518192-30518193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34348214	chr2:30518215-30518216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564218277	chr2:30518238-30518239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578000213	chr2:30518248-30518249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368059470	chr2:30518264-30518265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540214975	chr2:30518290-30518291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553072517	chr2:30518304-30518305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115409160	chr2:30518313-30518314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191521233	chr2:30518372-30518373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529800745	chr2:30518375-30518376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549028082	chr2:30518388-30518389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35706833	chr2:30518391-30518392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369495292	chr2:30518395-30518396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573716274	chr2:30518397-30518398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535568904	chr2:30518399-30518400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140102752	chr2:30518419-30518420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552094339	chr2:30518494-30518495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142400314	chr2:30518508-30518509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575915743	chr2:30518527-30518528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76349670	chr2:30518546-30518547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539467234	chr2:30518561-30518562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181161677	chr2:30518576-30518577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186229930	chr2:30518651-30518652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535552200	chr2:30518710-30518711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10210471	chr2:30518711-30518712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575440384	chr2:30518717-30518718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369357490	chr2:30518751-30518752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537632480	chr2:30518773-30518774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558065412	chr2:30518774-30518775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577882920	chr2:30518783-30518784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189828572	chr2:30518861-30518862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151302941	chr2:30518867-30518868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13003088	chr2:30518870-30518871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs72863581	chr2:30518915-30518916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573428605	chr2:30518971-30518972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562832674	chr2:30518999-30519000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531968317	chr2:30519023-30519024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551662227	chr2:30519024-30519025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
2	chr2:30511200-30523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:30513800-30522800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:30513800-30523400	Weak transcription	Thymus	Thymus
5	chr2:30514000-30522800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:30515000-30518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:30515000-30518200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:30516600-30518000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:30516600-30518800	Weak transcription	Spleen	Spleen
10	chr2:30516600-30522600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:30516600-30522800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:30516800-30519200	Weak transcription	K562	blood
13	chr2:30516800-30522000	Weak transcription	Left Ventricle	heart
14	chr2:30516800-30522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:30516800-30523000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:30516800-30524200	Weak transcription	Lung	lung
17	chr2:30517000-30518200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:30517000-30518800	Weak transcription	Fetal Heart	heart
19	chr2:30517000-30520600	Weak transcription	Primary B cells from cord blood	blood
20	chr2:30517000-30521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:30517000-30522200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:30517200-30519000	Weak transcription	A549	lung
23	chr2:30517200-30522600	Weak transcription	HSMMtube	muscle
24	chr2:30517400-30519000	Weak transcription	Right Ventricle	heart
25	chr2:30517400-30522800	Weak transcription	NHLF	lung
26	chr2:30517800-30518000	Enhancers	NH-A	brain
27	chr2:30517800-30520000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:30518000-30518200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:30518000-30519800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:30518000-30522800	Weak transcription	NH-A	brain
31	chr2:30518200-30524600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:30518400-30518600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:30518800-30519600	Enhancers	Spleen	Spleen
34	chr2:30518800-30519800	Enhancers	Fetal Heart	heart
35	chr2:30519000-30519400	Enhancers	Right Ventricle	heart
36	chr2:30519000-30519600	Enhancers	A549	lung
37	chr2:30519200-30519800	Enhancers	K562	blood
38	chr2:30519400-30522800	Weak transcription	Right Ventricle	heart
39	chr2:30519800-30520200	Genic enhancers	Fetal Heart	heart
40	chr2:30519800-30520800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:30519800-30523000	Weak transcription	K562	blood
42	chr2:30520000-30522200	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:30520200-30522600	Enhancers	Fetal Heart	heart
44	chr2:30520400-30520800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:30520600-30522200	Enhancers	Primary B cells from cord blood	blood
46	chr2:30520800-30521200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:30520800-30522800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:30521200-30521400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:30521400-30522000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:30521400-30522400	Enhancers	GM12878-XiMat	blood

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