Variant report

Variant	esv32643
Chromosome Location	chr21:17660528-17661245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr21:17660550-17660612	SH-SY5Y	brain:	n/a	chr21:17660550-17660558

Variant related genes	Relation type
ENSG00000201025	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181317501	chr21:17660532-17660533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575774852	chr21:17660553-17660554	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533461860	chr21:17660611-17660612	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs546981956	chr21:17660626-17660627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566832466	chr21:17660631-17660632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535892975	chr21:17660634-17660635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187911465	chr21:17660649-17660650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186873141	chr21:17660651-17660652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557852187	chr21:17660692-17660693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368076609	chr21:17660706-17660707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191763997	chr21:17660709-17660710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557897267	chr21:17660723-17660724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538357023	chr21:17660754-17660755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557905832	chr21:17660802-17660803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577762548	chr21:17660810-17660811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs5842564	chr21:17660814-17660815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577968960	chr21:17660845-17660846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144844488	chr21:17660907-17660908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1389070	chr21:17660908-17660909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148495511	chr21:17660923-17660924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562231703	chr21:17660924-17660925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563683595	chr21:17660940-17660941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531274100	chr21:17660950-17660951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183309988	chr21:17661015-17661016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560375731	chr21:17661016-17661017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186366662	chr21:17661078-17661079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370548177	chr21:17661128-17661129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1492956	chr21:17661129-17661130	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141851592	chr21:17661156-17661157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113779756	chr21:17661157-17661158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2823738	chr21:17661163-17661164	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562723602	chr21:17661202-17661203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538288636	chr21:17661208-17661209	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531331694	chr21:17661226-17661227	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1492955	chr21:17661235-17661236	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1492954	chr21:17661238-17661239	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17654800-17666600	Weak transcription	Fetal Heart	heart
3	chr21:17656800-17663000	Weak transcription	Liver	Liver
4	chr21:17658400-17670200	Weak transcription	Fetal Muscle Leg	muscle
5	chr21:17658600-17674800	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:17658600-17675200	Weak transcription	Ovary	ovary
7	chr21:17658800-17661000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17658800-17675200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:17659600-17660800	Enhancers	Brain Anterior Caudate	brain
10	chr21:17659600-17674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:17659600-17674800	Weak transcription	Brain Substantia Nigra	brain
12	chr21:17659600-17675000	Weak transcription	Brain Angular Gyrus	brain
13	chr21:17659600-17675200	Weak transcription	Adipose Nuclei	Adipose
14	chr21:17660400-17660600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:17660600-17661000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:17661000-17661200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:17661000-17663000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17661200-17662200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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