Variant report

Variant	esv3508350
Chromosome Location	chr15:49543710-49549008
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	chr15:49538461..49540714-chr15:49541925..49544059,3	K562	blood:
2	chr15:49541585..49543251-chr15:49545018..49547358,2	K562	blood:

Extended variants
information (count: 163 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs574509397	chr15:49543782-49543783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541815241	chr15:49543798-49543799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563281440	chr15:49543810-49543811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575893647	chr15:49543814-49543815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546465161	chr15:49543873-49543874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12916078	chr15:49543884-49543885	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150732267	chr15:49543937-49543938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139289143	chr15:49543968-49543969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143198157	chr15:49543971-49543972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529331922	chr15:49543988-49543989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187491358	chr15:49544016-49544017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16962202	chr15:49544044-49544045	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536987854	chr15:49544080-49544081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562564569	chr15:49544118-49544119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370223480	chr15:49544119-49544120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531642519	chr15:49544123-49544124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552407960	chr15:49544185-49544186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192997366	chr15:49544228-49544229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373889500	chr15:49544233-49544234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368051486	chr15:49544236-49544237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553122292	chr15:49544283-49544284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574621990	chr15:49544335-49544336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535539470	chr15:49544373-49544374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556720444	chr15:49544387-49544388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548541021	chr15:49544390-49544391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112263444	chr15:49544411-49544412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546181201	chr15:49544422-49544423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564773265	chr15:49544433-49544434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577118838	chr15:49544444-49544445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527976296	chr15:49544449-49544450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573115193	chr15:49544458-49544459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74741946	chr15:49544462-49544463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62009826	chr15:49544474-49544475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112982719	chr15:49544482-49544483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36052589	chr15:49544540-49544541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553013960	chr15:49544546-49544547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561924181	chr15:49544578-49544579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529394462	chr15:49544612-49544613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559263480	chr15:49544613-49544614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551044520	chr15:49544629-49544630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574272110	chr15:49544672-49544673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150054269	chr15:49544703-49544704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574550534	chr15:49544718-49544719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34271679	chr15:49544746-49544747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77503054	chr15:49544752-49544753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7165168	chr15:49544803-49544804	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs375187681	chr15:49544882-49544883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12902271	chr15:49544897-49544898	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs570726715	chr15:49544899-49544900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569755612	chr15:49544931-49544932	Weak transcription Strong 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:106 , 50 per page) page: 1 2 3

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	chr15:49524600-49544800	Weak transcription	Lung	lung
6	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:49528400-49547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:49529200-49550600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:49529400-49544200	Weak transcription	Brain Anterior Caudate	brain
10	chr15:49529400-49545600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:49532000-49545000	Weak transcription	Fetal Thymus	thymus
12	chr15:49532800-49545400	Weak transcription	HUVEC	blood vessel
13	chr15:49533400-49548200	Weak transcription	HMEC	breast
14	chr15:49533800-49576200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:49535600-49557000	Weak transcription	Fetal Intestine Small	intestine
16	chr15:49535600-49564600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:49535600-49574200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:49535600-49574200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:49535800-49545000	Weak transcription	Thymus	Thymus
20	chr15:49535800-49545600	Weak transcription	Fetal Intestine Large	intestine
21	chr15:49535800-49549200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:49535800-49563400	Weak transcription	NH-A	brain
23	chr15:49535800-49566800	Weak transcription	Left Ventricle	heart
24	chr15:49535800-49575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:49536000-49546800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:49536200-49547600	Weak transcription	Hela-S3	cervix
27	chr15:49536200-49549400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:49536200-49549800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:49536200-49553200	Weak transcription	Primary B cells from cord blood	blood
30	chr15:49537600-49566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:49537800-49549000	Weak transcription	Liver	Liver
32	chr15:49538600-49550400	Weak transcription	HSMM	muscle
33	chr15:49539400-49553200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:49539600-49543800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:49539600-49544400	Weak transcription	Placenta	Placenta
36	chr15:49539600-49563000	Weak transcription	Ovary	ovary
37	chr15:49540000-49550400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:49540000-49550400	Weak transcription	NHDF-Ad	bronchial
39	chr15:49540000-49552200	Weak transcription	Fetal Muscle Leg	muscle
40	chr15:49540000-49566200	Weak transcription	K562	blood
41	chr15:49540000-49577600	Weak transcription	Small Intestine	intestine
42	chr15:49540200-49545600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:49540200-49552200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:49540600-49557400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr15:49540800-49548400	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:49541200-49547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:49541400-49551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:49541400-49562600	Weak transcription	Dnd41	blood
49	chr15:49541600-49545400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr15:49541600-49548400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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