Variant report

Variant	esv3397225
Chromosome Location	chr5:68901696-68905094
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	EBF1	chr5:68904882-68905202	GM12878	blood:	n/a	n/a
2	IRF4	chr5:68904825-68905228	GM12878	blood:	n/a	n/a
3	PAX5	chr5:68904902-68905274	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:68904987-68905203	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr5:68904688-68904996	GM12878	blood:	n/a	chr5:68904857-68904864
6	SPI1	chr5:68904670-68905524	GM12891	blood:	n/a	chr5:68904857-68904864
7	SPI1	chr5:68904824-68904929	GM12878	blood:	n/a	chr5:68904857-68904864

Variant related genes	Relation type
ENSG00000248477	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568120518	chr5:68901714-68901715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200744002	chr5:68901775-68901776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202070072	chr5:68901890-68901891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535431777	chr5:68901971-68901972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554586039	chr5:68901981-68901982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573068962	chr5:68902005-68902006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533792883	chr5:68902009-68902010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558704601	chr5:68902010-68902011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58438250	chr5:68902080-68902081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577069281	chr5:68902513-68902514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544327277	chr5:68902570-68902571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368053335	chr5:68902671-68902672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189471348	chr5:68902829-68902830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562541023	chr5:68902860-68902861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574499409	chr5:68902880-68902881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541792489	chr5:68902885-68902886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560651596	chr5:68902906-68902907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527985161	chr5:68902953-68902954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552537113	chr5:68902954-68902955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200966956	chr5:68902992-68902993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201829840	chr5:68903006-68903007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200031007	chr5:68903013-68903014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77124470	chr5:68904678-68904679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68898200-68902000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:68901400-68902200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:68901400-68903000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:68902000-68902200	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:68902000-68902200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:68902200-68902600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:68902200-68903000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:68902200-68906400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:68902600-68903000	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:68902800-68903000	Enhancers	Primary B cells from cord blood	blood

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