Variant report

Variant	esv3428019
Chromosome Location	chr15:41865296-41865510
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	chr15:41865474-41865501	K562	blood:	n/a	n/a
2	POLR2A	chr15:41865370-41865458	K562	blood:	n/a	n/a

Variant related genes	Relation type
TYRO3	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368669643	chr15:41865309-41865310	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56136559	chr15:41865313-41865314	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199869325	chr15:41865329-41865330	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534524465	chr15:41865349-41865350	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115784902	chr15:41865406-41865407	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150085073	chr15:41865416-41865417	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370417697	chr15:41865431-41865432	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs138408027	chr15:41865460-41865461	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371457573	chr15:41865466-41865467	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190164320	chr15:41865487-41865488	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2246444	chr15:41865488-41865489	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs541883801	chr15:41865503-41865504	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142510731	chr15:41865505-41865506	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:90 , 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	chr15:41853200-41872600	Weak transcription	Hela-S3	cervix
6	chr15:41853400-41870600	Weak transcription	Stomach Mucosa	stomach
7	chr15:41854000-41871400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:41854200-41877000	Weak transcription	Fetal Brain Male	brain
9	chr15:41855400-41877000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:41855400-41877200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:41859000-41865400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:41859000-41866200	Weak transcription	NHDF-Ad	bronchial
13	chr15:41859000-41869000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:41859600-41865800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:41859600-41868000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:41860200-41866200	Strong transcription	Esophagus	oesophagus
17	chr15:41860800-41871800	Strong transcription	Brain Germinal Matrix	brain
18	chr15:41861000-41877200	Weak transcription	HUVEC	blood vessel
19	chr15:41861200-41867400	Weak transcription	Left Ventricle	heart
20	chr15:41861200-41870000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:41861200-41870000	Weak transcription	HSMMtube	muscle
22	chr15:41861200-41871200	Weak transcription	Small Intestine	intestine
23	chr15:41861200-41877000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:41861400-41865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:41861400-41867400	Weak transcription	Right Ventricle	heart
26	chr15:41861400-41868000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:41861400-41870000	Strong transcription	Fetal Muscle Leg	muscle
28	chr15:41861400-41870400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:41861400-41870400	Strong transcription	Fetal Stomach	stomach
30	chr15:41861400-41870600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:41861400-41870600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr15:41861400-41870800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:41861400-41871000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:41861400-41871400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:41861400-41871400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:41861400-41873200	Weak transcription	K562	blood
37	chr15:41861600-41868000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:41861600-41868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:41861600-41871400	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr15:41861600-41871400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:41861800-41866200	Strong transcription	Placenta	Placenta
42	chr15:41861800-41868400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:41861800-41870000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:41861800-41870200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:41861800-41870200	Strong transcription	Spleen	Spleen
46	chr15:41861800-41871000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:41861800-41871000	Strong transcription	Fetal Intestine Large	intestine
48	chr15:41862000-41865800	Strong transcription	NHLF	lung
49	chr15:41862000-41868200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:41862000-41870400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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