Variant report

Variant	esv3311828
Chromosome Location	chr15:72417708-72419409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72408676..72411234-chr15:72416192..72418083,2	K562	blood:
2	chr15:72407623..72411234-chr15:72416192..72418489,3	K562	blood:
3	chr15:72418217..72420819-chr15:72429200..72430983,2	K562	blood:

Variant related genes	Relation type
ENSG00000166192	chromatin interactions
ENSG00000066933	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28507982	chr15:72417710-72417711	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548884269	chr15:72417742-72417743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112296116	chr15:72417744-72417745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563508092	chr15:72417790-72417791	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567632595	chr15:72417852-72417853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531634118	chr15:72417872-72417873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181583191	chr15:72417915-72417916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs571688902	chr15:72417935-72417936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2925651	chr15:72417982-72417983	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149649570	chr15:72417984-72417985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs150778821	chr15:72418005-72418006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138032522	chr15:72418016-72418017	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76878179	chr15:72418035-72418036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142498276	chr15:72418036-72418037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2415133	chr15:72418057-72418058	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372099472	chr15:72418064-72418065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs367888528	chr15:72418082-72418083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190859912	chr15:72418145-72418146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543378968	chr15:72418156-72418157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544727228	chr15:72418171-72418172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559884193	chr15:72418175-72418176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182576605	chr15:72418203-72418204	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540568485	chr15:72418204-72418205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12591426	chr15:72418224-72418225	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs565247702	chr15:72418247-72418248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531720843	chr15:72418296-72418297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs549864723	chr15:72418307-72418308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374147520	chr15:72418312-72418313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368354544	chr15:72418428-72418429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs372344535	chr15:72418482-72418483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565283132	chr15:72418540-72418541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187757468	chr15:72418541-72418542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139815188	chr15:72418550-72418551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566256180	chr15:72418664-72418665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536894420	chr15:72418727-72418728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191245201	chr15:72418751-72418752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570214232	chr15:72418815-72418816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183401020	chr15:72418858-72418859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187010822	chr15:72418880-72418881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143135724	chr15:72418885-72418886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144848888	chr15:72418892-72418893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553476617	chr15:72418899-72418900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571904382	chr15:72418932-72418933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148594984	chr15:72418940-72418941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192265478	chr15:72418948-72418949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11072347	chr15:72418971-72418972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35854070	chr15:72418972-72418973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397715921	chr15:72418973-72418974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12906020	chr15:72418974-72418975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199689256	chr15:72418976-72418977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72411400-72432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:72411600-72428000	Weak transcription	Left Ventricle	heart
3	chr15:72411600-72433800	Weak transcription	Fetal Intestine Small	intestine
4	chr15:72411800-72421000	Weak transcription	Fetal Kidney	kidney
5	chr15:72412200-72431800	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links