Variant report

Variant	esv3376143
Chromosome Location	chr15:41862402-41862922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:41862889-41862964	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:41862804-41862969	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TYRO3	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201988251	chr15:41862408-41862409	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201371674	chr15:41862436-41862437	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201443654	chr15:41862457-41862458	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143186592	chr15:41862477-41862478	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372847154	chr15:41862497-41862498	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542281194	chr15:41862506-41862507	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141282452	chr15:41862515-41862516	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146237670	chr15:41862520-41862521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528638844	chr15:41862529-41862530	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138345868	chr15:41862540-41862541	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568298841	chr15:41862545-41862546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199655798	chr15:41862556-41862557	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139310063	chr15:41862639-41862640	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530977724	chr15:41862646-41862647	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115125334	chr15:41862666-41862667	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2305032	chr15:41862689-41862690	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536767376	chr15:41862744-41862745	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547095659	chr15:41862791-41862792	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370068722	chr15:41862796-41862797	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200684350	chr15:41862801-41862802	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181624470	chr15:41862821-41862822	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142874537	chr15:41862822-41862823	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs185795424	chr15:41862849-41862850	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs146082176	chr15:41862854-41862855	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139698238	chr15:41862867-41862868	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145161890	chr15:41862912-41862913	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs369575298	chr15:41862922-41862923	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41852200-41877400	Weak transcription	Aorta	Aorta
2	chr15:41852400-41877200	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:41852600-41877400	Weak transcription	HMEC	breast
4	chr15:41852800-41877400	Weak transcription	NHEK	skin
5	chr15:41853200-41863200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:41853200-41872600	Weak transcription	Hela-S3	cervix
7	chr15:41853400-41870600	Weak transcription	Stomach Mucosa	stomach
8	chr15:41853800-41864000	Genic enhancers	Brain Cingulate Gyrus	brain
9	chr15:41854000-41871400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:41854200-41877000	Weak transcription	Fetal Brain Male	brain
11	chr15:41855400-41863400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:41855400-41864400	Genic enhancers	Brain Hippocampus Middle	brain
13	chr15:41855400-41877000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:41855400-41877200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:41857400-41864000	Genic enhancers	Brain Inferior Temporal Lobe	brain
16	chr15:41857600-41863200	Weak transcription	Fetal Brain Female	brain
17	chr15:41858800-41863200	Genic enhancers	Ovary	ovary
18	chr15:41859000-41865400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:41859000-41866200	Weak transcription	NHDF-Ad	bronchial
20	chr15:41859000-41869000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:41859600-41865800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr15:41859600-41868000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:41860200-41866200	Strong transcription	Esophagus	oesophagus
24	chr15:41860800-41863000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:41860800-41871800	Strong transcription	Brain Germinal Matrix	brain
26	chr15:41861000-41863000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:41861000-41863600	Genic enhancers	Brain Substantia Nigra	brain
28	chr15:41861000-41877200	Weak transcription	HUVEC	blood vessel
29	chr15:41861200-41862800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:41861200-41862800	Weak transcription	Right Atrium	heart
31	chr15:41861200-41863000	Weak transcription	Lung	lung
32	chr15:41861200-41865200	Weak transcription	Gastric	stomach
33	chr15:41861200-41867400	Weak transcription	Left Ventricle	heart
34	chr15:41861200-41870000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:41861200-41870000	Weak transcription	HSMMtube	muscle
36	chr15:41861200-41871200	Weak transcription	Small Intestine	intestine
37	chr15:41861200-41877000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:41861400-41862600	Strong transcription	Brain Angular Gyrus	brain
39	chr15:41861400-41862600	Enhancers	HepG2	liver
40	chr15:41861400-41862800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:41861400-41863600	Strong transcription	Fetal Lung	lung
42	chr15:41861400-41865000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:41861400-41865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:41861400-41867400	Weak transcription	Right Ventricle	heart
45	chr15:41861400-41868000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:41861400-41870000	Strong transcription	Fetal Muscle Leg	muscle
47	chr15:41861400-41870400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:41861400-41870400	Strong transcription	Fetal Stomach	stomach
49	chr15:41861400-41870600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr15:41861400-41870600	Strong transcription	Fetal Muscle Trunk	muscle

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