Variant report

Variant	esv3407946
Chromosome Location	chr15:41674085-41676633
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	chr15:41672888..41674609-chr15:41676088..41678675,2	K562	blood:
2	chr15:41672888..41674609-chr15:41676088..41678675,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555817703	chr15:41674086-41674087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576270431	chr15:41674089-41674090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535650491	chr15:41674092-41674093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10153010	chr15:41674094-41674095	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572660196	chr15:41674116-41674117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62001410	chr15:41674278-41674279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62001411	chr15:41674287-41674288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62001412	chr15:41674291-41674292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190260016	chr15:41674379-41674380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530528872	chr15:41674382-41674383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113172130	chr15:41674383-41674384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373405788	chr15:41674384-41674385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564479621	chr15:41674387-41674388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181177807	chr15:41674388-41674389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577939773	chr15:41674432-41674433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543927005	chr15:41674433-41674434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112668032	chr15:41674461-41674462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577898493	chr15:41674519-41674520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28507602	chr15:41674645-41674646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28620299	chr15:41674766-41674767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28374393	chr15:41674872-41674873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563760179	chr15:41674952-41674953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28409289	chr15:41674967-41674968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28676797	chr15:41675000-41675001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71428770	chr15:41675794-41675795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535868248	chr15:41675812-41675813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8031373	chr15:41675940-41675941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531581169	chr15:41675975-41675976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533284664	chr15:41676052-41676053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34016399	chr15:41676242-41676243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57107619	chr15:41676243-41676244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397963360	chr15:41676262-41676263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377556778	chr15:41676263-41676264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558235256	chr15:41676268-41676269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139237690	chr15:41676292-41676293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56712909	chr15:41676325-41676326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59820716	chr15:41676327-41676328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147327667	chr15:41676339-41676340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546735400	chr15:41676364-41676365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11632249	chr15:41676391-41676392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71472481	chr15:41676396-41676397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187073149	chr15:41676397-41676398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527546009	chr15:41676434-41676435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191514233	chr15:41676436-41676437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570454447	chr15:41676439-41676440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539053563	chr15:41676488-41676489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549512060	chr15:41676489-41676490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111620312	chr15:41676510-41676511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535662985	chr15:41676514-41676515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535597531	chr15:41676524-41676525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41625800-41694200	Weak transcription	Small Intestine	intestine
2	chr15:41626200-41678200	Weak transcription	Liver	Liver
3	chr15:41626200-41680200	Weak transcription	Fetal Brain Male	brain
4	chr15:41626400-41677800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:41626400-41678400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:41626800-41686400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:41627200-41676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:41630400-41674200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr15:41631800-41679200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:41642800-41679400	Weak transcription	Ovary	ovary
11	chr15:41643800-41679000	Weak transcription	Pancreas	Pancrea
12	chr15:41644200-41678600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr15:41644200-41679800	Weak transcription	Primary B cells from cord blood	blood
14	chr15:41654200-41678200	Weak transcription	HSMMtube	muscle
15	chr15:41659400-41677800	Weak transcription	Lung	lung
16	chr15:41659600-41676200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:41659600-41678800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:41659800-41680000	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:41660000-41678200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:41660200-41677800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:41660200-41688400	Weak transcription	Esophagus	oesophagus
22	chr15:41660200-41693800	Weak transcription	Right Ventricle	heart
23	chr15:41660600-41679600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:41660600-41680000	Weak transcription	Psoas Muscle	Psoas
25	chr15:41661400-41679600	Weak transcription	Fetal Kidney	kidney
26	chr15:41661800-41693200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:41663400-41677800	Weak transcription	Adipose Nuclei	Adipose
28	chr15:41664600-41679800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:41664800-41678200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:41665200-41688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:41665800-41683400	Weak transcription	Left Ventricle	heart
32	chr15:41666400-41686400	Weak transcription	Brain Anterior Caudate	brain
33	chr15:41666600-41680000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:41667000-41678200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:41668400-41678200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:41669000-41687000	Weak transcription	Aorta	Aorta
37	chr15:41669600-41678600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:41669600-41684400	Weak transcription	Brain Substantia Nigra	brain
39	chr15:41670600-41678400	Weak transcription	NHLF	lung
40	chr15:41670600-41679600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:41670600-41686400	Weak transcription	NH-A	brain
42	chr15:41670800-41678400	Weak transcription	Placenta	Placenta
43	chr15:41670800-41678600	Weak transcription	Fetal Brain Female	brain
44	chr15:41670800-41686400	Weak transcription	Gastric	stomach
45	chr15:41671000-41677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:41671600-41678800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:41672000-41676400	Weak transcription	Fetal Intestine Small	intestine
48	chr15:41672000-41693600	Weak transcription	Colonic Mucosa	Colon
49	chr15:41672200-41676400	Weak transcription	Spleen	Spleen
50	chr15:41672200-41676400	Weak transcription	HepG2	liver

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