Variant report

Variant	esv11690
Chromosome Location	chr2:36895035-36897988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs112141241	chr2:36895038-36895039	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562064030	chr2:36895062-36895063	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115387914	chr2:36895128-36895129	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs6755559	chr2:36895186-36895187	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559825390	chr2:36895230-36895231	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201492489	chr2:36895246-36895247	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530909235	chr2:36895252-36895253	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551787702	chr2:36895274-36895275	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs72870392	chr2:36895306-36895307	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77111810	chr2:36895340-36895341	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs6726841	chr2:36895344-36895345	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs6755720	chr2:36895361-36895362	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116078194	chr2:36895381-36895382	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141779076	chr2:36895389-36895390	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561562662	chr2:36895401-36895402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150148735	chr2:36895422-36895423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4670581	chr2:36895437-36895438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576259248	chr2:36895470-36895471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6755744	chr2:36895500-36895501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546475212	chr2:36895511-36895512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555634664	chr2:36895545-36895546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6756051	chr2:36895590-36895591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576574274	chr2:36895592-36895593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541583870	chr2:36895594-36895595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559837689	chr2:36895610-36895611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577965217	chr2:36895616-36895617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545350696	chr2:36895627-36895628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75705369	chr2:36895637-36895638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6755881	chr2:36895652-36895653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs34028336	chr2:36895666-36895667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561194628	chr2:36895669-36895670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376034700	chr2:36895715-36895716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4670582	chr2:36895728-36895729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs561826367	chr2:36895752-36895753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547100227	chr2:36895797-36895798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138802394	chr2:36895808-36895809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539084086	chr2:36895833-36895834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78210666	chr2:36895844-36895845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569534110	chr2:36895871-36895872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116748220	chr2:36895878-36895879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202210124	chr2:36895924-36895925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71249723	chr2:36895925-36895926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201459577	chr2:36895926-36895927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534767438	chr2:36895931-36895932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553518121	chr2:36895953-36895954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578023054	chr2:36895963-36895964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13387810	chr2:36896011-36896012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368514459	chr2:36896039-36896040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12997734	chr2:36896042-36896043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374175995	chr2:36896043-36896044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36891400-36897800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:36891400-36897800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:36891600-36897600	Weak transcription	Osteobl	bone
4	chr2:36892000-36900200	Weak transcription	A549	lung
5	chr2:36892400-36898200	Weak transcription	NHDF-Ad	bronchial
6	chr2:36892800-36897800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:36892800-36898200	Weak transcription	NHLF	lung
8	chr2:36894800-36895200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:36894800-36895200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:36894800-36895200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:36894800-36895200	Active TSS	Brain Hippocampus Middle	brain
12	chr2:36894800-36895400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:36894800-36895400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:36894800-36895400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:36894800-36895400	Enhancers	Brain Angular Gyrus	brain
16	chr2:36894800-36895400	Enhancers	HUVEC	blood vessel
17	chr2:36894800-36895600	Enhancers	Adipose Nuclei	Adipose
18	chr2:36894800-36895800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:36894800-36895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:36895000-36895200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:36895000-36895400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:36895000-36895400	Active TSS	Brain Anterior Caudate	brain
23	chr2:36895000-36895600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:36895000-36895800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:36895200-36895600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:36895200-36897000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:36895200-36897200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:36895400-36895600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:36895400-36897800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:36895400-36897800	Weak transcription	HUVEC	blood vessel
31	chr2:36895800-36903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:36897000-36897600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:36897200-36897400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:36897200-36898400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:36897400-36898000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:36897600-36898800	Enhancers	Osteobl	bone
37	chr2:36897800-36898400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:36897800-36898600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:36897800-36898600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:36897800-36898600	Enhancers	HUVEC	blood vessel
41	chr2:36897800-36898800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:36897800-36898800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:36897800-36899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:36897800-36899200	Enhancers	Muscle Satellite Cultured Cells	--

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