Variant report

Variant	esv2284145
Chromosome Location	chr3:28193215-28193216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28192472..28194097-chr3:28198773..28201544,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372577585	chr3:28193215-28193216	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570809783	chr3:28193216-28193217	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28190800-28193400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr3:28192400-28194000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr3:28192600-28193600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:28192600-28194000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:28192600-28194200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:28192600-28194200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr3:28192600-28194200	Enhancers	Small Intestine	intestine
8	chr3:28192800-28193400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:28192800-28193600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:28192800-28193600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:28193000-28193800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:28193200-28193400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr3:28193200-28193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:28193200-28193400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr3:28193200-28193600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:28193200-28193600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:28193200-28193600	Active TSS	Liver	Liver
18	chr3:28193200-28193600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr3:28193200-28193600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:28193200-28193800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr3:28193200-28193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:28193200-28193800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:28193200-28193800	Active TSS	Brain Anterior Caudate	brain
24	chr3:28193200-28193800	Active TSS	NHDF-Ad	bronchial
25	chr3:28193200-28194000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:28193200-28194000	Active TSS	GM12878-XiMat	blood
27	chr3:28193200-28194200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:28193200-28194200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr3:28193200-28194200	Flanking Active TSS	Dnd41	blood

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