Variant report

Variant	esv3428416
Chromosome Location	chr21:15915501-15915679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15915395..15917614-chr21:16129062..16131798,2	K562	blood:
2	chr21:15913818..15915789-chr21:15955801..15958160,2	K562	blood:
3	chr21:15914500..15916247-chr21:15937941..15940190,2	K562	blood:
4	chr21:15912730..15916019-chr21:15916425..15919963,12	K562	blood:
5	chr21:15915303..15917955-chr21:15967480..15970218,2	K562	blood:

Variant related genes	Relation type
ENSG00000155307	chromatin interactions
ENSG00000228600	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13048538	chr21:15915506-15915507	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144660685	chr21:15915523-15915524	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367902217	chr21:15915524-15915525	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532100617	chr21:15915534-15915535	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552225980	chr21:15915537-15915538	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7280293	chr21:15915599-15915600	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528207747	chr21:15915642-15915643	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15913600-15917000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr21:15913600-15917200	Flanking Active TSS	Dnd41	blood
3	chr21:15913600-15919200	Active TSS	K562	blood
4	chr21:15913800-15915600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr21:15913800-15917000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr21:15913800-15918000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr21:15914000-15915600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr21:15914000-15915600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr21:15914000-15915800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:15914000-15918800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr21:15914000-15919000	Active TSS	GM12878-XiMat	blood
12	chr21:15914200-15918800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr21:15914400-15918000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr21:15914600-15916000	Weak transcription	Adipose Nuclei	Adipose
15	chr21:15914600-15916200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:15914600-15916200	Weak transcription	Right Atrium	heart
17	chr21:15914600-15916400	Weak transcription	Brain Anterior Caudate	brain
18	chr21:15914800-15916200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:15914800-15916200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr21:15914800-15916400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:15914800-15916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:15914800-15917800	Weak transcription	Thymus	Thymus
23	chr21:15914800-15918600	Active TSS	Primary B cells from cord blood	blood
24	chr21:15915000-15915600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr21:15915000-15915600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr21:15915200-15915600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr21:15915200-15915600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr21:15915200-15915800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr21:15915200-15916200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:15915200-15916400	Weak transcription	Fetal Thymus	thymus
31	chr21:15915400-15915600	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr21:15915400-15916200	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr21:15915400-15916200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr21:15915400-15916400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr21:15915400-15916400	Weak transcription	HUVEC	blood vessel
36	chr21:15915400-15918400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:15915600-15915800	Active TSS	Primary hematopoietic stem cells	blood
38	chr21:15915600-15915800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr21:15915600-15915800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr21:15915600-15916000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr21:15915600-15916200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr21:15915600-15916200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr21:15915600-15916200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr21:15915600-15918800	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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