Variant report

Variant	esv16537
Chromosome Location	chr15:82396887-82401477
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:82336857..82340285-chr15:82395789..82397569,3	MCF-7	breast:
2	chr15:82394736..82396289-chr15:82399463..82401078,2	MCF-7	breast:
3	chr15:82401295..82402881-chr15:82407665..82409375,2	K562	blood:
4	chr15:82396164..82398346-chr15:82406284..82408349,2	K562	blood:
5	chr15:82390762..82392949-chr15:82398564..82402214,3	K562	blood:
6	chr15:82400510..82401451-chr15:82489931..82491014,9	MCF-7	breast:
7	chr15:81772882..81773555-chr15:82397557..82398455,2	K562	blood:
8	chr15:82400526..82401456-chr15:82490044..82491282,10	MCF-7	breast:
9	chr15:82400583..82401510-chr15:82431758..82433239,16	MCF-7	breast:
10	chr15:82400569..82401498-chr15:82490090..82491041,4	K562	blood:
11	chr15:82400531..82401257-chr15:82431919..82432522,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183496	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116709807	chr15:82396898-82396899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372139313	chr15:82396902-82396903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569198617	chr15:82396930-82396931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28687030	chr15:82397010-82397011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557335234	chr15:82397043-82397044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570798543	chr15:82397055-82397056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539918212	chr15:82397057-82397058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553078270	chr15:82397060-82397061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573084899	chr15:82397140-82397141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369937550	chr15:82397182-82397183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542032906	chr15:82397186-82397187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555610727	chr15:82397219-82397220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34272930	chr15:82397257-82397258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575894648	chr15:82397264-82397265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562792857	chr15:82397266-82397267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560662094	chr15:82397283-82397284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373124492	chr15:82397292-82397293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116525537	chr15:82397300-82397301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200281898	chr15:82397347-82397348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529734450	chr15:82397384-82397385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58451322	chr15:82397386-82397387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2654211	chr15:82397431-82397432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532908228	chr15:82397432-82397433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560306918	chr15:82397511-82397512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564910827	chr15:82397512-82397513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549203461	chr15:82397518-82397519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187924232	chr15:82397549-82397550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531626286	chr15:82397559-82397560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551433409	chr15:82397561-82397562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7175658	chr15:82397576-82397577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539482702	chr15:82397633-82397634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553014717	chr15:82397670-82397671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7179926	chr15:82397731-82397732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116139315	chr15:82397758-82397759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144067971	chr15:82397779-82397780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74695981	chr15:82397833-82397834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114927282	chr15:82397905-82397906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34441723	chr15:82397960-82397961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144347121	chr15:82398052-82398053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577533391	chr15:82398068-82398069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190226988	chr15:82398149-82398150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60739084	chr15:82398166-82398167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372858730	chr15:82398189-82398190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377163020	chr15:82398191-82398192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs950419	chr15:82398217-82398218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115070746	chr15:82398308-82398309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562700418	chr15:82398323-82398324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552155038	chr15:82398355-82398356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531433772	chr15:82398384-82398385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551636407	chr15:82398439-82398440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82393000-82397800	Weak transcription	Osteobl	bone
2	chr15:82393200-82397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:82393200-82397600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr15:82393400-82397200	Weak transcription	HSMM	muscle
5	chr15:82393400-82398000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:82393400-82399200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:82393400-82399200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:82393600-82397000	Weak transcription	HSMMtube	muscle
9	chr15:82393600-82397800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:82393600-82404000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:82396400-82406000	Weak transcription	Right Atrium	heart
12	chr15:82396600-82399200	Weak transcription	K562	blood
13	chr15:82396800-82398200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:82397000-82398400	Enhancers	HSMMtube	muscle
15	chr15:82397200-82401600	Enhancers	HSMM	muscle
16	chr15:82397400-82399600	Enhancers	Placenta	Placenta
17	chr15:82397600-82397800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:82397600-82398800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:82397600-82399400	Enhancers	HMEC	breast
20	chr15:82397600-82399600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:82397600-82399600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:82397800-82398200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:82397800-82398200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:82397800-82398200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:82397800-82398200	Enhancers	A549	lung
26	chr15:82397800-82398200	Enhancers	NHLF	lung
27	chr15:82397800-82398200	Enhancers	Osteobl	bone
28	chr15:82397800-82398600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:82397800-82398600	Enhancers	NHEK	skin
30	chr15:82397800-82398800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:82397800-82399400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:82397800-82399400	Enhancers	NH-A	brain
33	chr15:82397800-82399600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:82398000-82398200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:82398000-82398200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:82398000-82398600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:82398000-82398600	Enhancers	NHDF-Ad	bronchial
38	chr15:82398200-82398600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr15:82398200-82399200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:82398200-82399200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:82398200-82401000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:82398200-82401200	Weak transcription	A549	lung
43	chr15:82398200-82404000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:82398200-82414200	Weak transcription	NHLF	lung
45	chr15:82398400-82398800	Weak transcription	HSMMtube	muscle
46	chr15:82398600-82399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:82398600-82403800	Weak transcription	NHDF-Ad	bronchial
48	chr15:82398800-82399600	Enhancers	HSMMtube	muscle
49	chr15:82399000-82399600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:82399000-82452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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