Variant report

Variant	esv3431541
Chromosome Location	chr15:59272553-59272874
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	chr15:59272370..59273203-chr15:59785181..59785695,2	K562	blood:
2	chr15:59272484..59273573-chr15:59453101..59454034,3	MCF-7	breast:
3	chr15:59272151..59273342-chr15:59429978..59430828,6	MCF-7	breast:
4	chr15:59270904..59273461-chr15:59278790..59281623,2	MCF-7	breast:
5	chr15:59271260..59274887-chr15:59397313..59399336,3	K562	blood:
6	chr15:59245090..59247424-chr15:59270731..59272689,2	MCF-7	breast:
7	chr15:59271834..59273496-chr15:59277776..59280062,2	K562	blood:
8	chr15:59272284..59273222-chr15:59430080..59431038,7	K562	blood:
9	chr15:59264832..59268316-chr15:59270514..59274227,3	K562	blood:
10	chr15:59271482..59274101-chr15:59428986..59430660,2	MCF-7	breast:
11	chr15:59270453..59272806-chr15:59287808..59289576,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157450	chromatin interactions
ENSG00000157456	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186464013	chr15:59272587-59272588	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2414616	chr15:59272648-59272649	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs149684957	chr15:59272652-59272653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369023689	chr15:59272712-59272713	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563602365	chr15:59272727-59272728	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532133766	chr15:59272780-59272781	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372666906	chr15:59272839-59272840	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
Prostate cancer	16573809	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	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	19238632	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	19318576	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59265600-59279200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:59266000-59274400	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:59268000-59273800	Weak transcription	Adipose Nuclei	Adipose
4	chr15:59268600-59273000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:59268600-59274000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:59268600-59279000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:59268800-59272800	Weak transcription	Primary T cells from cord blood	blood
8	chr15:59268800-59272800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:59268800-59273000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:59268800-59273000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:59268800-59273000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:59268800-59273000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:59268800-59273200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:59269000-59272800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:59269000-59272800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:59269000-59273000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:59269000-59273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:59269600-59274400	Enhancers	Primary B cells from cord blood	blood
19	chr15:59270000-59274000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:59271400-59274200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:59271600-59272600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:59271600-59272600	Enhancers	Osteobl	bone
23	chr15:59271600-59273400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:59271800-59272600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr15:59271800-59272800	Enhancers	NHDF-Ad	bronchial
26	chr15:59271800-59273200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr15:59271800-59273600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr15:59271800-59273600	Enhancers	Duodenum Mucosa	Duodenum
29	chr15:59272000-59272600	Enhancers	Colon Smooth Muscle	Colon
30	chr15:59272000-59272600	Enhancers	Rectal Smooth Muscle	rectum
31	chr15:59272000-59273000	Weak transcription	NHLF	lung
32	chr15:59272000-59273800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr15:59272200-59272600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:59272200-59272600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:59272200-59272600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:59272200-59274400	Flanking Active TSS	GM12878-XiMat	blood
37	chr15:59272200-59279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:59272400-59272600	Enhancers	Stomach Smooth Muscle	stomach
39	chr15:59272400-59272800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr15:59272400-59279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:59272400-59279200	Weak transcription	NHEK	skin
42	chr15:59272600-59273000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr15:59272600-59273600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:59272600-59273600	Weak transcription	Osteobl	bone
45	chr15:59272600-59273800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr15:59272600-59273800	Enhancers	Dnd41	blood
47	chr15:59272600-59274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:59272800-59273000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:59272800-59273200	Weak transcription	NHDF-Ad	bronchial
50	chr15:59272800-59273600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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