Variant report

Variant	esv3311212
Chromosome Location	chr15:49544864-49547855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49541585..49543251-chr15:49545018..49547358,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375187681	chr15:49544882-49544883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12902271	chr15:49544897-49544898	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs570726715	chr15:49544899-49544900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569755612	chr15:49544931-49544932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76190968	chr15:49544949-49544950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546848040	chr15:49544950-49544951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79363305	chr15:49544959-49544960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16962205	chr15:49545009-49545010	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572293228	chr15:49545027-49545028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541281194	chr15:49545028-49545029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532849303	chr15:49545031-49545032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556968785	chr15:49545043-49545044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547437740	chr15:49545170-49545171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575152269	chr15:49545218-49545219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539383959	chr15:49545266-49545267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148706847	chr15:49545405-49545406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573229052	chr15:49545419-49545420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12904022	chr15:49545432-49545433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12906900	chr15:49545453-49545454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12906766	chr15:49545454-49545455	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367630782	chr15:49545460-49545461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142349109	chr15:49545538-49545539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185505718	chr15:49545599-49545600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527261068	chr15:49545630-49545631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555582131	chr15:49545656-49545657	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573856937	chr15:49545732-49545733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16962209	chr15:49545780-49545781	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375167772	chr15:49545801-49545802	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562973456	chr15:49545836-49545837	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533190462	chr15:49545906-49545907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577389554	chr15:49545907-49545908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545421612	chr15:49545934-49545935	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79810524	chr15:49545965-49545966	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528432947	chr15:49546005-49546006	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560470938	chr15:49546037-49546038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377475377	chr15:49546038-49546039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546872795	chr15:49546043-49546044	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568263444	chr15:49546044-49546045	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77516875	chr15:49546046-49546047	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550418435	chr15:49546050-49546051	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16962211	chr15:49546105-49546106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190444145	chr15:49546112-49546113	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117525206	chr15:49546235-49546236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534231151	chr15:49546316-49546317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555594443	chr15:49546419-49546420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59081826	chr15:49546470-49546471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541897622	chr15:49546519-49546520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76884531	chr15:49546581-49546582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146814755	chr15:49546595-49546596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558722877	chr15:49546614-49546615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Aromatase excess syndrome	21470988	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49518200-49548600	Weak transcription	Aorta	Aorta
2	chr15:49518600-49557600	Weak transcription	Esophagus	oesophagus
3	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
4	chr15:49522400-49559400	Weak transcription	Pancreas	Pancrea
5	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:49528400-49547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:49529200-49550600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:49529400-49545600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:49532000-49545000	Weak transcription	Fetal Thymus	thymus
10	chr15:49532800-49545400	Weak transcription	HUVEC	blood vessel
11	chr15:49533400-49548200	Weak transcription	HMEC	breast
12	chr15:49533800-49576200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:49535600-49557000	Weak transcription	Fetal Intestine Small	intestine
14	chr15:49535600-49564600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr15:49535600-49574200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:49535600-49574200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:49535800-49545000	Weak transcription	Thymus	Thymus
18	chr15:49535800-49545600	Weak transcription	Fetal Intestine Large	intestine
19	chr15:49535800-49549200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:49535800-49563400	Weak transcription	NH-A	brain
21	chr15:49535800-49566800	Weak transcription	Left Ventricle	heart
22	chr15:49535800-49575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:49536000-49546800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:49536200-49547600	Weak transcription	Hela-S3	cervix
25	chr15:49536200-49549400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:49536200-49549800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:49536200-49553200	Weak transcription	Primary B cells from cord blood	blood
28	chr15:49537600-49566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:49537800-49549000	Weak transcription	Liver	Liver
30	chr15:49538600-49550400	Weak transcription	HSMM	muscle
31	chr15:49539400-49553200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:49539600-49563000	Weak transcription	Ovary	ovary
33	chr15:49540000-49550400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:49540000-49550400	Weak transcription	NHDF-Ad	bronchial
35	chr15:49540000-49552200	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:49540000-49566200	Weak transcription	K562	blood
37	chr15:49540000-49577600	Weak transcription	Small Intestine	intestine
38	chr15:49540200-49545600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:49540200-49552200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:49540600-49557400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:49540800-49548400	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:49541200-49547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:49541400-49551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:49541400-49562600	Weak transcription	Dnd41	blood
45	chr15:49541600-49545400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr15:49541600-49548400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:49541600-49557200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:49541600-49575000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:49541600-49595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:49541800-49545400	Weak transcription	Fetal Lung	lung

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