Variant report

Variant	esv3494910
Chromosome Location	chr15:72571928-72575582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72572263..72574208-chr15:72582105..72583633,2	K562	blood:
2	chr15:72575298..72576860-chr15:72578215..72580118,2	K562	blood:
3	chr15:72564271..72566801-chr15:72572069..72573786,2	K562	blood:

Variant related genes	Relation type
ENSG00000137817	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2912213	chr15:72571929-72571930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113278555	chr15:72571939-72571940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567883987	chr15:72571945-72571946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370186161	chr15:72571952-72571953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375286466	chr15:72571984-72571985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574221762	chr15:72572075-72572076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556910069	chr15:72572091-72572092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs578150988	chr15:72572095-72572096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561507604	chr15:72572127-72572128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545795744	chr15:72572128-72572129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557511376	chr15:72572210-72572211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572796213	chr15:72572214-72572215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183229032	chr15:72572235-72572236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539969032	chr15:72572254-72572255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11631113	chr15:72572303-72572304	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529070475	chr15:72572326-72572327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138964826	chr15:72572355-72572356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562444113	chr15:72572371-72572372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533036303	chr15:72572428-72572429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551644206	chr15:72572440-72572441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566798642	chr15:72572555-72572556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527661541	chr15:72572589-72572590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183433758	chr15:72572620-72572621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567726235	chr15:72572735-72572736	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187573303	chr15:72572760-72572761	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536190499	chr15:72572821-72572822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142891050	chr15:72572899-72572900	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78640269	chr15:72572922-72572923	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367693847	chr15:72572934-72572935	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554427670	chr15:72573024-72573025	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576352840	chr15:72573026-72573027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572785782	chr15:72573047-72573048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs67849115	chr15:72573076-72573077	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555065665	chr15:72573077-72573078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573354109	chr15:72573114-72573115	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544009960	chr15:72573153-72573154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146984575	chr15:72573171-72573172	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138074897	chr15:72573261-72573262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544697857	chr15:72573268-72573269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558293108	chr15:72573297-72573298	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577763864	chr15:72573415-72573416	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143541684	chr15:72573478-72573479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560377290	chr15:72573520-72573521	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527700839	chr15:72573522-72573523	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549367094	chr15:72573574-72573575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577999248	chr15:72573603-72573604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372974174	chr15:72573620-72573621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545971756	chr15:72573626-72573627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561379063	chr15:72573659-72573660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531883982	chr15:72573677-72573678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72565800-72572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:72566000-72573600	Weak transcription	Brain Anterior Caudate	brain
3	chr15:72566000-72573600	Weak transcription	Brain Substantia Nigra	brain
4	chr15:72566000-72575800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:72566000-72576400	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:72566000-72577800	Weak transcription	Fetal Intestine Small	intestine
7	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
9	chr15:72566200-72573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:72566200-72573600	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:72566200-72577000	Weak transcription	Ovary	ovary
12	chr15:72566200-72577600	Weak transcription	Brain Angular Gyrus	brain
13	chr15:72566200-72578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:72566200-72579200	Weak transcription	Primary T cells from cord blood	blood
15	chr15:72566400-72573600	Weak transcription	K562	blood
16	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:72569000-72576800	Weak transcription	HSMMtube	muscle
19	chr15:72569200-72574000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:72571200-72573600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:72572200-72573600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:72572400-72573800	Enhancers	Adipose Nuclei	Adipose
23	chr15:72572600-72573800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:72572800-72573200	Enhancers	Fetal Intestine Large	intestine
25	chr15:72572800-72573800	Enhancers	Liver	Liver
26	chr15:72572800-72574200	Enhancers	HepG2	liver
27	chr15:72573000-72573200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:72573000-72582600	Weak transcription	Placenta	Placenta
29	chr15:72573200-72575800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:72573200-72603000	Weak transcription	Fetal Intestine Large	intestine
31	chr15:72573400-72573600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:72573400-72582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:72573600-72573800	Enhancers	Brain Anterior Caudate	brain
34	chr15:72573600-72573800	Enhancers	Brain Cingulate Gyrus	brain
35	chr15:72573600-72573800	Enhancers	Brain Hippocampus Middle	brain
36	chr15:72573600-72573800	Enhancers	Brain Substantia Nigra	brain
37	chr15:72573600-72574400	Enhancers	K562	blood
38	chr15:72573600-72578600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:72573800-72574600	Enhancers	GM12878-XiMat	blood
40	chr15:72573800-72575800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:72573800-72578600	Weak transcription	Adipose Nuclei	Adipose
42	chr15:72573800-72595000	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:72573800-72595000	Weak transcription	Brain Substantia Nigra	brain
44	chr15:72573800-72596200	Weak transcription	Liver	Liver
45	chr15:72573800-72597200	Weak transcription	Brain Anterior Caudate	brain
46	chr15:72574000-72574400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:72574400-72595000	Weak transcription	Lung	lung
48	chr15:72574600-72575800	Weak transcription	GM12878-XiMat	blood
49	chr15:72574600-72581000	Weak transcription	Fetal Brain Female	brain
50	chr15:72574800-72576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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