Variant report

Variant	nsv519435
Chromosome Location	chr15:45777344-45779008
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	chr15:45778786..45780311-chr15:45786816..45789298,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1153829	chr15:45777344-45777345	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374371212	chr15:45777430-45777431	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569587049	chr15:45777452-45777453	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367913793	chr15:45777473-45777474	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111266531	chr15:45777484-45777485	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200476763	chr15:45777548-45777549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531395281	chr15:45777558-45777559	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554935114	chr15:45777577-45777578	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575090582	chr15:45777586-45777587	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139357229	chr15:45777587-45777588	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568142054	chr15:45777592-45777593	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76524931	chr15:45777607-45777608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371615910	chr15:45777616-45777617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77869069	chr15:45777641-45777642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142948876	chr15:45777701-45777702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370913106	chr15:45777713-45777714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183341976	chr15:45777748-45777749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542224755	chr15:45777786-45777787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187635825	chr15:45777809-45777810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556348976	chr15:45777846-45777847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193064192	chr15:45777872-45777873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535688151	chr15:45777883-45777884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183089782	chr15:45777898-45777899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564317087	chr15:45777911-45777912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148930421	chr15:45777912-45777913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533046039	chr15:45777920-45777921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147456408	chr15:45778018-45778019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148518654	chr15:45778040-45778041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141881266	chr15:45778041-45778042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548969437	chr15:45778063-45778064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568611121	chr15:45778097-45778098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576619724	chr15:45778154-45778155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534266993	chr15:45778183-45778184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553937044	chr15:45778199-45778200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570744481	chr15:45778208-45778209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150646951	chr15:45778209-45778210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188125944	chr15:45778216-45778217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543792834	chr15:45778217-45778218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576491502	chr15:45778227-45778228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559014830	chr15:45778251-45778252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139551704	chr15:45778289-45778290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192348796	chr15:45778306-45778307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572244284	chr15:45778307-45778308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577577865	chr15:45778319-45778320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541373279	chr15:45778335-45778336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564253826	chr15:45778358-45778359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541345780	chr15:45778372-45778373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543655692	chr15:45778377-45778378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563194474	chr15:45778428-45778429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12592036	chr15:45778458-45778459	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45750800-45781000	Weak transcription	Stomach Mucosa	stomach
2	chr15:45751200-45801600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:45754200-45801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:45757000-45794600	Weak transcription	Colonic Mucosa	Colon
5	chr15:45757000-45801800	Weak transcription	Gastric	stomach
6	chr15:45767200-45813600	Weak transcription	Psoas Muscle	Psoas
7	chr15:45767400-45781000	Weak transcription	Lung	lung
8	chr15:45768200-45780200	Weak transcription	Fetal Stomach	stomach
9	chr15:45769200-45781400	Weak transcription	Osteobl	bone
10	chr15:45769200-45812000	Weak transcription	Small Intestine	intestine
11	chr15:45769400-45778000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:45769400-45791800	Weak transcription	NH-A	brain
13	chr15:45769400-45794600	Weak transcription	Fetal Intestine Small	intestine
14	chr15:45769400-45794800	Weak transcription	Ovary	ovary
15	chr15:45769400-45813000	Weak transcription	Fetal Intestine Large	intestine
16	chr15:45769600-45779200	Weak transcription	Liver	Liver
17	chr15:45769600-45780000	Weak transcription	Left Ventricle	heart
18	chr15:45769800-45778400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:45769800-45794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:45770200-45780000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:45770200-45781000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:45770800-45779600	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:45771000-45778000	Weak transcription	Aorta	Aorta
24	chr15:45771000-45813400	Weak transcription	Right Ventricle	heart
25	chr15:45771200-45814000	Weak transcription	Placenta	Placenta
26	chr15:45771400-45780200	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:45771800-45778400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:45772000-45779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:45772000-45801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:45772200-45779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:45772200-45791000	Weak transcription	HSMM	muscle
32	chr15:45773200-45814000	Weak transcription	Pancreas	Pancrea
33	chr15:45773400-45779400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:45773400-45790600	Weak transcription	HSMMtube	muscle
35	chr15:45773600-45779400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:45774600-45812800	Weak transcription	Fetal Brain Male	brain
37	chr15:45775000-45777600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr15:45775400-45786600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:45775600-45777600	Strong transcription	Primary T cells from cord blood	blood
40	chr15:45775600-45781600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:45775600-45791800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:45775600-45812800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr15:45775800-45780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:45776000-45800400	Weak transcription	Esophagus	oesophagus
45	chr15:45776600-45780800	Weak transcription	NHDF-Ad	bronchial
46	chr15:45776600-45783600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:45776800-45781800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr15:45777000-45777600	Genic enhancers	Brain Hippocampus Middle	brain
49	chr15:45777000-45777600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr15:45777000-45777600	Enhancers	Brain Substantia Nigra	brain

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