Variant report

Variant	esv2762475
Chromosome Location	chr2:35392051-35404755
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:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35393157..35394354-chr2:35634679..35636139,8	MCF-7	breast:
2	chr2:35393099..35394069-chr2:35567966..35568823,5	MCF-7	breast:
3	chr2:35393272..35393934-chr2:35653413..35654042,2	MCF-7	breast:
4	chr2:35392713..35393658-chr2:35567942..35568821,2	MCF-7	breast:
5	chr2:35390044..35391720-chr2:35398125..35400924,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIM1-1	chr2:35397858-35398245	ENSG00000226994.3
2	lnc-CRIM1-1	chr2:35399595-35399715	ENSG00000226994.3
3	lnc-CRIM1-1	chr2:35395244-35395415	ENSG00000226994.3
4	lnc-CRIM1-1	chr2:35397858-35398097	ENSG00000226994.3
5	lnc-CRIM1-1	chr2:35397858-35398190	ENSG00000226994.3

No data

Extended variants
information (count: 186 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs114643026	chr2:35395249-35395250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553521775	chr2:35395261-35395262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs575561240	chr2:35395314-35395315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs184891429	chr2:35395334-35395335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs188182612	chr2:35395398-35395399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs545981305	chr2:35397869-35397870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs74593075	chr2:35397897-35397898	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532400235	chr2:35397916-35397917	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs192457284	chr2:35397922-35397923	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs62142454	chr2:35397932-35397933	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537700016	chr2:35397943-35397944	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs556316748	chr2:35398006-35398007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs567791048	chr2:35398009-35398010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs370883512	chr2:35398066-35398067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs550125039	chr2:35398114-35398115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs372218655	chr2:35398141-35398142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs570020654	chr2:35398145-35398146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs538918556	chr2:35398158-35398159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs529680039	chr2:35398197-35398198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs148769288	chr2:35398221-35398222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs78400205	chr2:35398241-35398242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs372114354	chr2:35399599-35399600	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs146415439	chr2:35399613-35399614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs572078003	chr2:35399621-35399622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537625111	chr2:35399636-35399637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs551121861	chr2:35399641-35399642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs187298170	chr2:35399642-35399643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs570895454	chr2:35399659-35399660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs539462192	chr2:35399670-35399671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs7558459	chr2:35399697-35399698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs77966605	chr2:35400278-35400279	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550778233	chr2:35400303-35400304	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367906719	chr2:35400304-35400305	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377529076	chr2:35400336-35400337	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557894760	chr2:35400387-35400388	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577668936	chr2:35400398-35400399	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78629203	chr2:35400431-35400432	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567714394	chr2:35400461-35400462	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76970466	chr2:35400497-35400498	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147896369	chr2:35400498-35400499	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368946009	chr2:35400507-35400508	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75753427	chr2:35400510-35400511	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547284922	chr2:35400514-35400515	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113939074	chr2:35400570-35400571	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544820088	chr2:35400597-35400598	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564746831	chr2:35400670-35400671	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs533352477	chr2:35400702-35400703	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs181326859	chr2:35400703-35400704	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs535785010	chr2:35400717-35400718	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs566833162	chr2:35400721-35400722	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35400200-35400400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
2	chr2:35400200-35400600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:35400200-35400800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr2:35400400-35400800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr2:35400400-35400800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr2:35400400-35401000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr2:35400600-35400800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr2:35401400-35401800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:35401600-35401800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr2:35401600-35402200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:35401600-35403000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr2:35402000-35402400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr2:35402200-35402400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr2:35402200-35402400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr2:35402200-35403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:35402400-35402600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr2:35403000-35403400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35403400-35404000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35403800-35404000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr2:35403800-35404000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr2:35403800-35404000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr2:35403800-35404200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr2:35404000-35404200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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