Variant report

Variant	esv3452000
Chromosome Location	chr15:43255867-43256250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551105504	chr15:43255906-43255907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561410921	chr15:43255934-43255935	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184146760	chr15:43255939-43255940	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547244757	chr15:43256002-43256003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567039670	chr15:43256017-43256018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538979769	chr15:43256047-43256048	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369064981	chr15:43256104-43256105	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2054389	chr15:43256121-43256122	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs201922951	chr15:43256139-43256140	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537486780	chr15:43256147-43256148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201595040	chr15:43256152-43256153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3917223	chr15:43256191-43256192	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143431275	chr15:43256217-43256218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201384130	chr15:43256221-43256222	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43236000-43268400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:43241200-43269800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:43241600-43258600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr15:43241600-43258800	Strong transcription	Placenta	Placenta
6	chr15:43241600-43259200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr15:43241600-43259800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr15:43241600-43261800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:43241600-43271000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:43241600-43271800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:43241800-43257600	Strong transcription	Fetal Brain Female	brain
12	chr15:43241800-43258800	Strong transcription	Adipose Nuclei	Adipose
13	chr15:43241800-43258800	Strong transcription	Fetal Intestine Large	intestine
14	chr15:43241800-43259400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:43241800-43270800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:43242000-43258800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:43242200-43258600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:43242200-43258800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:43242200-43258800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr15:43242200-43259000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:43242200-43259400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:43242200-43270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:43242400-43259000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:43242800-43262600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:43243200-43256200	Weak transcription	Fetal Heart	heart
26	chr15:43243800-43265000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:43244000-43276400	Weak transcription	Psoas Muscle	Psoas
28	chr15:43244600-43266200	Weak transcription	Gastric	stomach
29	chr15:43247400-43258800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:43247400-43259000	Strong transcription	Liver	Liver
31	chr15:43247600-43258600	Strong transcription	Primary T cells from cord blood	blood
32	chr15:43247600-43258800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:43247600-43260800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:43247800-43258600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:43248000-43320600	Weak transcription	Stomach Mucosa	stomach
36	chr15:43248200-43257400	Strong transcription	Left Ventricle	heart
37	chr15:43248200-43259400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:43248200-43265000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:43249200-43258600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:43249200-43258600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:43249400-43258600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:43249400-43265000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:43249400-43268800	Strong transcription	Fetal Muscle Leg	muscle
44	chr15:43249600-43258800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:43249600-43265000	Weak transcription	A549	lung
46	chr15:43249600-43283200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:43249800-43258600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:43249800-43258600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:43249800-43262600	Weak transcription	Fetal Kidney	kidney
50	chr15:43250000-43261000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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