Variant report

Variant	nsv521475
Chromosome Location	chr15:73250485-73263405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:73261869..73264413-chr15:73266352..73269682,3	MCF-7	breast:
2	chr15:73262584..73265850-chr15:73343191..73346081,4	MCF-7	breast:
3	chr15:73258007..73261007-chr15:73268843..73272452,3	K562	blood:
4	chr15:73261065..73262566-chr15:73288942..73290715,2	MCF-7	breast:
5	chr15:73073604..73076193-chr15:73263164..73264719,2	K562	blood:
6	chr15:73258951..73261600-chr15:73262517..73265524,3	MCF-7	breast:
7	chr15:73258951..73261600-chr15:73262517..73265524,3	MCF-7	breast:
8	chr15:73253962..73256097-chr15:73259190..73261337,2	MCF-7	breast:
9	chr15:73258007..73260619-chr15:73270009..73272452,2	K562	blood:
10	chr15:73234817..73236569-chr15:73261756..73264144,2	MCF-7	breast:
11	chr15:73253962..73256097-chr15:73259190..73261337,2	MCF-7	breast:
12	chr15:73262265..73265047-chr15:73342979..73345241,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260898	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000067141	chromatin interactions

Extended variants
information (count: 503 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4238458	chr15:73250485-73250486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141888994	chr15:73250500-73250501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567684036	chr15:73250514-73250515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184895282	chr15:73250535-73250536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188453378	chr15:73250547-73250548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146277290	chr15:73250590-73250591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538806143	chr15:73250639-73250640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180832709	chr15:73250654-73250655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566435973	chr15:73250667-73250668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138099640	chr15:73250706-73250707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142565283	chr15:73250719-73250720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547867343	chr15:73250731-73250732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573553453	chr15:73250742-73250743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537462880	chr15:73250746-73250747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556459085	chr15:73250767-73250768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185817974	chr15:73250828-73250829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545222743	chr15:73250843-73250844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191280307	chr15:73250854-73250855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74021589	chr15:73250885-73250886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535090646	chr15:73250912-73250913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555016649	chr15:73250920-73250921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544337735	chr15:73250972-73250973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181153268	chr15:73251041-73251042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs732044	chr15:73251136-73251137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150551393	chr15:73251150-73251151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139536584	chr15:73251207-73251208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149691051	chr15:73251268-73251269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565190924	chr15:73251291-73251292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371051083	chr15:73251292-73251293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544161442	chr15:73251375-73251376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532712453	chr15:73251381-73251382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186799136	chr15:73251506-73251507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368185400	chr15:73251577-73251578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557959033	chr15:73251601-73251602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566291834	chr15:73251649-73251650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144456220	chr15:73251726-73251727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549028674	chr15:73251730-73251731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567260728	chr15:73251782-73251783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540394341	chr15:73251840-73251841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116242190	chr15:73251882-73251883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6495034	chr15:73251898-73251899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577990446	chr15:73251909-73251910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538967886	chr15:73251930-73251931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553660882	chr15:73251947-73251948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572174555	chr15:73251955-73251956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559893338	chr15:73251956-73251957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191642059	chr15:73251962-73251963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183446686	chr15:73251965-73251966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576461970	chr15:73252013-73252014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543407722	chr15:73252055-73252056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73238400-73253800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:73250800-73252000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:73250800-73252000	Enhancers	Liver	Liver
4	chr15:73251000-73251600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:73251000-73251800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:73251200-73251400	Enhancers	Small Intestine	intestine
7	chr15:73251200-73251800	Enhancers	Colonic Mucosa	Colon
8	chr15:73251800-73253400	Weak transcription	Colonic Mucosa	Colon
9	chr15:73252000-73253400	Weak transcription	Small Intestine	intestine
10	chr15:73253400-73254600	Enhancers	Duodenum Mucosa	Duodenum
11	chr15:73253400-73255000	Enhancers	Colonic Mucosa	Colon
12	chr15:73253400-73258200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:73253400-73261400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:73253600-73254200	Enhancers	Small Intestine	intestine
15	chr15:73253600-73254400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:73253600-73254800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr15:73253600-73255000	Enhancers	Fetal Muscle Leg	muscle
18	chr15:73253600-73255200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr15:73253800-73254400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:73253800-73254800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:73253800-73255200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:73253800-73255200	Enhancers	Fetal Intestine Small	intestine
23	chr15:73254000-73254600	Enhancers	Fetal Brain Male	brain
24	chr15:73254200-73255200	Enhancers	Fetal Intestine Large	intestine
25	chr15:73254400-73254800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr15:73254400-73254800	Enhancers	Fetal Muscle Trunk	muscle
27	chr15:73254400-73254800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr15:73254400-73256400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:73254600-73255000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr15:73254600-73258000	Weak transcription	Fetal Brain Male	brain
31	chr15:73254800-73255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:73254800-73256800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:73254800-73260000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:73254800-73263200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:73255000-73259800	Weak transcription	Colonic Mucosa	Colon
36	chr15:73255200-73255600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr15:73255200-73258000	Weak transcription	Fetal Intestine Large	intestine
38	chr15:73255600-73256800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr15:73255800-73256000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr15:73256600-73256800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:73256800-73258200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:73256800-73260000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:73257800-73258200	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr15:73257800-73258400	Enhancers	Fetal Intestine Small	intestine
45	chr15:73258000-73258600	Enhancers	Fetal Intestine Large	intestine
46	chr15:73258000-73264400	Enhancers	Fetal Brain Male	brain
47	chr15:73258200-73258400	Enhancers	Fetal Brain Female	brain
48	chr15:73258200-73259800	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:73258400-73258600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr15:73258400-73259800	Weak transcription	Fetal Brain Female	brain

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