Variant report

Variant	esv3416129
Chromosome Location	chr21:39977978-39978230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39977468..39979671-chr21:39981051..39984898,3	MCF-7	breast:
2	chr21:39976854..39979728-chr21:39990683..39992423,2	K562	blood:
3	chr21:39973136..39976022-chr21:39976251..39978959,2	MCF-7	breast:
4	chr21:39976367..39979221-chr21:39982997..39985400,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146994753	chr21:39977990-39977991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527784394	chr21:39977993-39977994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374606616	chr21:39977997-39977998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374274702	chr21:39978046-39978047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184301566	chr21:39978079-39978080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188457594	chr21:39978101-39978102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147458590	chr21:39978108-39978109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8130668	chr21:39978141-39978142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181842338	chr21:39978154-39978155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539082483	chr21:39978159-39978160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376266574	chr21:39978174-39978175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58902569	chr21:39978182-39978183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527839678	chr21:39978193-39978194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113768786	chr21:39978197-39978198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73432174	chr21:39978217-39978218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117910189	chr21:39978228-39978229	Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39973000-39982000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:39976600-39978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:39977200-39978000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:39977600-39982200	Weak transcription	Aorta	Aorta

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