Variant report

Variant	esv3436509
Chromosome Location	chr15:72580723-72583271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72563018..72565780-chr15:72578799..72580848,2	K562	blood:
2	chr15:72572263..72574208-chr15:72582105..72583633,2	K562	blood:
3	chr15:72562719..72568093-chr15:72577087..72580814,5	MCF-7	breast:
4	chr15:72577424..72579912-chr15:72581637..72583573,2	K562	blood:

Variant related genes	Relation type
ENSG00000137817	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185544168	chr15:72580799-72580800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201565193	chr15:72580815-72580816	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371909592	chr15:72580830-72580831	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371011481	chr15:72580832-72580833	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374383155	chr15:72580840-72580841	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200682140	chr15:72580841-72580842	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368776944	chr15:72580868-72580869	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373381789	chr15:72580884-72580885	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376352620	chr15:72580901-72580902	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369857833	chr15:72580922-72580923	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140846344	chr15:72580998-72580999	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200139811	chr15:72581009-72581010	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189630860	chr15:72581011-72581012	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560573316	chr15:72581032-72581033	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543457025	chr15:72581079-72581080	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563306969	chr15:72581095-72581096	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180726853	chr15:72581109-72581110	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538417210	chr15:72581155-72581156	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373197572	chr15:72581192-72581193	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550230830	chr15:72581213-72581214	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374945909	chr15:72581215-72581216	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369096275	chr15:72581231-72581232	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111792085	chr15:72581241-72581242	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs372876718	chr15:72581246-72581247	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201772134	chr15:72581271-72581272	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572504991	chr15:72581274-72581275	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533672304	chr15:72581290-72581291	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150136841	chr15:72581303-72581304	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs78309289	chr15:72581339-72581340	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573770905	chr15:72581358-72581359	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544366012	chr15:72581360-72581361	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562641938	chr15:72581361-72581362	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577826237	chr15:72581374-72581375	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138555565	chr15:72581503-72581504	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200089059	chr15:72581507-72581508	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs527664069	chr15:72581510-72581511	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549531529	chr15:72581521-72581522	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148963570	chr15:72581531-72581532	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185490050	chr15:72581534-72581535	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs368093578	chr15:72581555-72581556	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201924492	chr15:72581577-72581578	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35293819	chr15:72581661-72581662	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199558643	chr15:72581721-72581722	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527981118	chr15:72581750-72581751	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200615584	chr15:72581778-72581779	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200190765	chr15:72581972-72581973	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371205936	chr15:72581973-72581974	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571738634	chr15:72582052-72582053	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202213817	chr15:72582080-72582081	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552232686	chr15:72582115-72582116	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
3	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:72573000-72582600	Weak transcription	Placenta	Placenta
6	chr15:72573200-72603000	Weak transcription	Fetal Intestine Large	intestine
7	chr15:72573400-72582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:72573800-72595000	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:72573800-72595000	Weak transcription	Brain Substantia Nigra	brain
10	chr15:72573800-72596200	Weak transcription	Liver	Liver
11	chr15:72573800-72597200	Weak transcription	Brain Anterior Caudate	brain
12	chr15:72574400-72595000	Weak transcription	Lung	lung
13	chr15:72574600-72581000	Weak transcription	Fetal Brain Female	brain
14	chr15:72575800-72582600	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr15:72577000-72580800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:72577600-72581000	Strong transcription	Brain Angular Gyrus	brain
17	chr15:72577800-72581600	Strong transcription	Fetal Intestine Small	intestine
18	chr15:72578000-72581000	Weak transcription	Spleen	Spleen
19	chr15:72578000-72611800	Weak transcription	Ovary	ovary
20	chr15:72578600-72580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:72578600-72580800	Strong transcription	Adipose Nuclei	Adipose
22	chr15:72578800-72580800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:72578800-72581200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr15:72579000-72598200	Weak transcription	Brain Germinal Matrix	brain
25	chr15:72579200-72586400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:72579600-72602400	Weak transcription	Primary T cells from cord blood	blood
27	chr15:72580800-72582000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:72580800-72582600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:72580800-72595000	Weak transcription	Adipose Nuclei	Adipose
30	chr15:72580800-72598200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:72581000-72581200	Strong transcription	Spleen	Spleen
32	chr15:72581000-72581600	Strong transcription	Fetal Brain Female	brain
33	chr15:72581000-72595200	Weak transcription	Brain Angular Gyrus	brain
34	chr15:72581200-72582000	ZNF genes & repeats	Spleen	Spleen
35	chr15:72581200-72598600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:72581600-72584200	Weak transcription	Fetal Brain Female	brain
37	chr15:72581600-72594800	Weak transcription	Fetal Intestine Small	intestine
38	chr15:72582000-72608000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:72582000-72611800	Weak transcription	Spleen	Spleen
40	chr15:72582600-72582800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:72582600-72595000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:72582600-72598600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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