Variant report

Variant	esv2368112
Chromosome Location	chr5:49740901-49740902
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	FOXM1	chr5:49740865-49741596	GM12878	blood:	n/a	n/a
2	SPI1	chr5:49740854-49742008	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49736414..49737923-chr5:49740071..49742726,2	MCF-7	breast:

Variant related genes	Relation type
EMB	TF binding region
ENSG00000170571	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 84 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532649020	chr5:49740901-49740902	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49737800-49741200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr5:49737800-49741400	Weak transcription	Thymus	Thymus
3	chr5:49738600-49741400	Enhancers	Dnd41	blood
4	chr5:49739200-49741200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:49739200-49741400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:49739800-49741000	Enhancers	Primary B cells from cord blood	blood
7	chr5:49740200-49741000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:49740200-49741200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:49740400-49741200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:49740400-49743400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:49740600-49741000	Enhancers	Primary T cells from cord blood	blood
12	chr5:49740600-49741200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:49740600-49741200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:49740600-49741200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:49740600-49742000	Enhancers	Fetal Thymus	thymus
16	chr5:49740600-49742600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:49740600-49742800	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:49740600-49744800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:49740800-49741000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr5:49740800-49741000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:49740800-49741200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:49740800-49741200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr5:49740800-49741200	Enhancers	GM12878-XiMat	blood
24	chr5:49740800-49741600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr5:49740800-49741600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:49740800-49741800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr5:49740800-49741800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:49740800-49742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:49740800-49742200	Enhancers	Primary hematopoietic stem cells	blood

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