Variant report

Variant	esv3350154
Chromosome Location	chr21:17661956-17664054
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	MAFK	chr21:17663953-17664121	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:17662403-17662493	GM12878	blood:	n/a	n/a
3	STAT3	chr21:17663420-17663480	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000201025	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536095561	chr21:17661968-17661969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186624729	chr21:17662015-17662016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558223238	chr21:17662025-17662026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577969889	chr21:17662035-17662036	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192798573	chr21:17662040-17662041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538304721	chr21:17662105-17662106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146483804	chr21:17662169-17662170	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536166479	chr21:17662202-17662203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183184457	chr21:17662290-17662291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560461605	chr21:17662338-17662339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560618988	chr21:17662381-17662382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139924689	chr21:17662409-17662410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543333137	chr21:17662436-17662437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73370739	chr21:17662443-17662444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368246536	chr21:17662458-17662459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531707697	chr21:17662478-17662479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529231369	chr21:17662539-17662540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534151847	chr21:17662547-17662548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73189036	chr21:17662562-17662563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187845054	chr21:17662568-17662569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527756256	chr21:17662612-17662613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573963446	chr21:17662640-17662641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80197906	chr21:17662645-17662646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75669646	chr21:17662646-17662647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547489005	chr21:17662651-17662652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567085431	chr21:17662658-17662659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193175694	chr21:17662659-17662660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184353927	chr21:17662662-17662663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549663346	chr21:17662668-17662669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569880659	chr21:17662683-17662684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112831397	chr21:17662694-17662695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558236919	chr21:17662696-17662697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562788090	chr21:17662698-17662699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534661376	chr21:17662708-17662709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373955354	chr21:17662720-17662721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs239056	chr21:17662734-17662735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371784353	chr21:17662758-17662759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544786032	chr21:17662779-17662780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543271440	chr21:17662792-17662793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563181941	chr21:17662808-17662809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528298423	chr21:17662824-17662825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576626386	chr21:17662825-17662826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545706166	chr21:17662826-17662827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35975326	chr21:17662901-17662902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs171191	chr21:17662908-17662909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34850415	chr21:17662917-17662918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66600048	chr21:17662933-17662934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375048612	chr21:17662937-17662938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79571793	chr21:17662938-17662939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78129892	chr21:17662940-17662941	Weak transcription	n/a	n/a	Overlapped CNVs	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	chr21:17658800-17675200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17659600-17674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:17659600-17674800	Weak transcription	Brain Substantia Nigra	brain
10	chr21:17659600-17675000	Weak transcription	Brain Angular Gyrus	brain
11	chr21:17659600-17675200	Weak transcription	Adipose Nuclei	Adipose
12	chr21:17661000-17663000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17661200-17662200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:17662200-17663000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:17663000-17664200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:17663000-17664600	Enhancers	Liver	Liver
17	chr21:17663000-17665800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17664000-17675000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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