Variant report

Variant	esv3378727
Chromosome Location	chr21:39964137-39964474
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	chr21:39952017..39953838-chr21:39962654..39965463,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541358423	chr21:39964179-39964180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs973105	chr21:39964199-39964200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530051459	chr21:39964212-39964213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543754110	chr21:39964218-39964219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3065417	chr21:39964281-39964282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397867446	chr21:39964283-39964284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2836545	chr21:39964298-39964299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146631953	chr21:39964352-39964353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186688266	chr21:39964357-39964358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34518799	chr21:39964366-39964367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140045436	chr21:39964371-39964372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9976134	chr21:39964375-39964376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35943698	chr21:39964386-39964387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60212067	chr21:39964402-39964403	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192444789	chr21:39964441-39964442	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183438230	chr21:39964456-39964457	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370966217	chr21:39964467-39964468	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39955800-39971200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:39956600-39966000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:39961800-39964200	Weak transcription	Aorta	Aorta
4	chr21:39963800-39964400	Enhancers	Fetal Muscle Leg	muscle
5	chr21:39964000-39964400	Enhancers	Fetal Muscle Trunk	muscle
6	chr21:39964000-39964400	Enhancers	Spleen	Spleen
7	chr21:39964200-39964600	Enhancers	Aorta	Aorta
8	chr21:39964200-39964800	Enhancers	Fetal Brain Female	brain
9	chr21:39964400-39964800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:39964400-39965000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:39964400-39968800	Weak transcription	Spleen	Spleen

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