Variant report

Variant	nsv904337
Chromosome Location	chr15:72361942-72390515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72355239..72357340-chr15:72363526..72365084,2	K562	blood:
2	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:
3	chr15:72378259..72378845-chr15:72448189..72448926,2	MCF-7	breast:
4	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:
5	chr15:72383759..72385848-chr15:72409093..72411983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166192	chromatin interactions
ENSG00000066933	chromatin interactions

Extended variants
information (count: 1008 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12593857	chr15:72361942-72361943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573312245	chr15:72361999-72362000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114365223	chr15:72362025-72362026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186576068	chr15:72362049-72362050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574055716	chr15:72362065-72362066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544752524	chr15:72362120-72362121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192306310	chr15:72362151-72362152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181978367	chr15:72362152-72362153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186137527	chr15:72362163-72362164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545322731	chr15:72362172-72362173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560428859	chr15:72362174-72362175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12593946	chr15:72362185-72362186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12901580	chr15:72362206-72362207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs9806217	chr15:72362219-72362220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148136112	chr15:72362249-72362250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529017398	chr15:72362257-72362258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550745591	chr15:72362296-72362297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34461691	chr15:72362304-72362305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79479195	chr15:72362317-72362318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62024420	chr15:72362319-72362320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189840886	chr15:72362335-72362336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58626760	chr15:72362336-72362337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539731995	chr15:72362405-72362406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551669091	chr15:72362418-72362419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566797359	chr15:72362419-72362420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534137515	chr15:72362425-72362426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555488517	chr15:72362447-72362448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567740003	chr15:72362466-72362467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78398326	chr15:72362488-72362489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538001828	chr15:72362504-72362505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371841996	chr15:72362509-72362510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182122040	chr15:72362575-72362576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369004240	chr15:72362625-72362626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559315285	chr15:72362633-72362634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572720514	chr15:72362637-72362638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78667572	chr15:72362638-72362639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189954377	chr15:72362662-72362663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553996088	chr15:72362687-72362688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375506381	chr15:72362700-72362701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561920606	chr15:72362718-72362719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75023888	chr15:72362794-72362795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79575488	chr15:72362796-72362797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539831442	chr15:72362806-72362807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544423950	chr15:72362830-72362831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561573957	chr15:72362834-72362835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528957231	chr15:72362857-72362858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183701572	chr15:72362878-72362879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141908328	chr15:72362953-72362954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530816925	chr15:72362964-72362965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562620791	chr15:72362972-72362973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72339000-72363400	Weak transcription	Primary B cells from cord blood	blood
2	chr15:72351200-72363400	Weak transcription	NHDF-Ad	bronchial
3	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:72353600-72379600	Weak transcription	Primary T cells from cord blood	blood
5	chr15:72353800-72366400	Weak transcription	Fetal Kidney	kidney
6	chr15:72354000-72366800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:72354000-72378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:72354200-72363000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:72354400-72374800	Weak transcription	Psoas Muscle	Psoas
10	chr15:72355200-72362000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:72355800-72376200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:72356000-72364000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:72356400-72370200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:72358000-72363200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:72359800-72362600	Weak transcription	Lung	lung
16	chr15:72361600-72363200	Weak transcription	A549	lung
17	chr15:72361600-72370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:72361600-72377400	Weak transcription	Fetal Intestine Small	intestine
19	chr15:72361600-72390600	Weak transcription	Aorta	Aorta
20	chr15:72361600-72391400	Weak transcription	Ovary	ovary
21	chr15:72362000-72362200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:72362600-72362800	Enhancers	Lung	lung
23	chr15:72362800-72364000	Enhancers	GM12878-XiMat	blood
24	chr15:72363000-72363200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:72363000-72363600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:72363200-72363600	Enhancers	A549	lung
27	chr15:72363200-72364400	Enhancers	Primary B cells from peripheral blood	blood
28	chr15:72363400-72363600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:72363400-72363600	Enhancers	Primary B cells from cord blood	blood
30	chr15:72363400-72363600	Enhancers	NHDF-Ad	bronchial
31	chr15:72363400-72363800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:72363600-72366800	Weak transcription	A549	lung
33	chr15:72363600-72370200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:72363800-72366800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:72366400-72367000	Enhancers	Fetal Kidney	kidney
36	chr15:72366600-72367000	Enhancers	Colon Smooth Muscle	Colon
37	chr15:72366800-72367200	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:72366800-72367200	Enhancers	A549	lung
39	chr15:72367000-72367200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr15:72367200-72370800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:72367800-72377400	Weak transcription	Fetal Stomach	stomach
43	chr15:72368800-72370600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:72370000-72378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:72370200-72370800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:72370200-72371200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:72370200-72372200	Enhancers	GM12878-XiMat	blood
48	chr15:72370400-72370600	Enhancers	Right Ventricle	heart
49	chr15:72370600-72370800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr15:72370800-72371400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links