Variant report

Variant	nsv527885
Chromosome Location	chr21:17758842-17759180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1449522	chr21:17758842-17758843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182395370	chr21:17758843-17758844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187808535	chr21:17758872-17758873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576394908	chr21:17758875-17758876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17210086	chr21:17758884-17758885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115835849	chr21:17758887-17758888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140130123	chr21:17758912-17758913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540787282	chr21:17758939-17758940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149422817	chr21:17758942-17758943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529911432	chr21:17758952-17758953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549697911	chr21:17758960-17758961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569622941	chr21:17758988-17758989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117456327	chr21:17758994-17758995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552153820	chr21:17759021-17759022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192195561	chr21:17759025-17759026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs240467	chr21:17759097-17759098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545166566	chr21:17759130-17759131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184972043	chr21:17759138-17759139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189387792	chr21:17759140-17759141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17307376	chr21:17759162-17759163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116749801	chr21:17759176-17759177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192142921	chr21:17759178-17759179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2823769	chr21:17759180-17759181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17735800-17767200	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:17742800-17760800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17745200-17764000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr21:17751200-17760600	Weak transcription	Ovary	ovary
5	chr21:17751600-17760800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:17752800-17763200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:17758600-17759400	Enhancers	Fetal Lung	lung
8	chr21:17758800-17759200	Enhancers	Brain Substantia Nigra	brain
9	chr21:17759000-17759200	Enhancers	Fetal Heart	heart

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