Variant report

Variant	esv3435848
Chromosome Location	chr2:36986190-36991198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36981413..36983737-chr2:36983835..36986819,2	K562	blood:
2	chr2:36987514..36989270-chr2:36997117..36998900,2	K562	blood:
3	chr2:36983691..36986604-chr2:36986917..36989477,2	MCF-7	breast:
4	chr2:36983691..36986604-chr2:36986917..36989477,2	MCF-7	breast:

Extended variants
information (count: 255 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376684714	chr2:36986201-36986202	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371587076	chr2:36986202-36986203	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373391093	chr2:36986223-36986224	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs61745550	chr2:36986238-36986239	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188101772	chr2:36986239-36986240	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368072266	chr2:36986240-36986241	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181008151	chr2:36986241-36986242	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61738664	chr2:36986261-36986262	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs199675772	chr2:36986262-36986263	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566225779	chr2:36986294-36986295	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557034178	chr2:36986299-36986300	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536452699	chr2:36986315-36986316	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186250917	chr2:36986321-36986322	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191806632	chr2:36986370-36986371	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554586034	chr2:36986383-36986384	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs573067120	chr2:36986390-36986391	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182432541	chr2:36986399-36986400	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11885114	chr2:36986447-36986448	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576964165	chr2:36986471-36986472	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs111981326	chr2:36986509-36986510	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs555021291	chr2:36986512-36986513	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369453664	chr2:36986520-36986521	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10179289	chr2:36986549-36986550	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548527417	chr2:36986571-36986572	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186604478	chr2:36986577-36986578	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527939101	chr2:36986600-36986601	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552502977	chr2:36986640-36986641	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571045011	chr2:36986691-36986692	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538783965	chr2:36986714-36986715	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550671160	chr2:36986732-36986733	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568940341	chr2:36986739-36986740	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146002497	chr2:36986764-36986765	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554505576	chr2:36986915-36986916	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139893677	chr2:36986932-36986933	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534085390	chr2:36986937-36986938	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs543733023	chr2:36986958-36986959	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs368292054	chr2:36987012-36987013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544335861	chr2:36987013-36987014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141741229	chr2:36987031-36987032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574562903	chr2:36987048-36987049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6544033	chr2:36987058-36987059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560456489	chr2:36987084-36987085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375093326	chr2:36987138-36987139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200821830	chr2:36987148-36987149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201773000	chr2:36987149-36987150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78518761	chr2:36987156-36987157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397750319	chr2:36987157-36987158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528013304	chr2:36987161-36987162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369856770	chr2:36987163-36987164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372647808	chr2:36987167-36987168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36971400-36992600	Weak transcription	Ovary	ovary
2	chr2:36971600-36992600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:36973400-36987600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:36980000-36989800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:36982000-36986400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:36982200-36989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:36982800-36996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:36983800-36989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:36984000-36988000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:36984000-36989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:36984400-36987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:36986000-36987000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:36986200-36987000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:36986400-36986800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:36986400-36986800	Enhancers	Brain Substantia Nigra	brain
16	chr2:36986400-36987000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:36987000-36992200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:36987600-36988000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:36987800-36988200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:36987800-36988200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:36987800-36988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:36988000-36993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:36989000-36989200	Bivalent Enhancer	HepG2	liver
24	chr2:36989400-36990200	Enhancers	HSMMtube	muscle
25	chr2:36989400-36990400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:36989400-36990600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:36989600-36990400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:36989800-36990400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:36989800-36990600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:36990000-36990200	Active TSS	HSMM	muscle
31	chr2:36990200-36990400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
32	chr2:36990200-36990400	Flanking Active TSS	HSMM	muscle
33	chr2:36990200-36990600	Flanking Active TSS	HSMMtube	muscle
34	chr2:36990600-36990800	Enhancers	HSMMtube	muscle

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