Variant report

Variant	esv3421518
Chromosome Location	chr21:46665174-46666322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46660560..46663002-chr21:46663883..46666664,2	K562	blood:
2	chr21:46664716..46666767-chr21:46668227..46671842,4	K562	blood:
3	chr21:46664212..46666311-chr21:46925426..46928389,2	K562	blood:
4	chr21:46664721..46667302-chr21:46670973..46673031,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-1	chr21:46666122-46666225	XLOC_013980
2	lnc-ADARB1-1	chr21:46666189-46666225	NONHSAT082923

No data

Variant related genes	Relation type
ENSG00000182871	chromatin interactions
BTAF1	miRNA target sites

Extended variants
information (count: 61 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578068225	chr21:46665178-46665179	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2838834	chr21:46665208-46665209	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs563892670	chr21:46665328-46665329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531195159	chr21:46665342-46665343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543327050	chr21:46665363-46665364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201841587	chr21:46665410-46665411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9980676	chr21:46665430-46665431	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs13046043	chr21:46665474-46665475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189048218	chr21:46665500-46665501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181494288	chr21:46665504-46665505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13046058	chr21:46665517-46665518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9980784	chr21:46665543-46665544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13046072	chr21:46665553-46665554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13046073	chr21:46665554-46665555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13050491	chr21:46665563-46665564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13050493	chr21:46665569-46665570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9980872	chr21:46665589-46665590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142452762	chr21:46665676-46665677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9983311	chr21:46665682-46665683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375731283	chr21:46665717-46665718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528084123	chr21:46665723-46665724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187498104	chr21:46665737-46665738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571278944	chr21:46665738-46665739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150940743	chr21:46665794-46665795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550335614	chr21:46665803-46665804	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568729295	chr21:46665808-46665809	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536079354	chr21:46665828-46665829	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554421389	chr21:46665832-46665833	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2838835	chr21:46665834-46665835	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370519603	chr21:46665858-46665859	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544205594	chr21:46665875-46665876	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376820178	chr21:46665887-46665888	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73369039	chr21:46665897-46665898	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77510908	chr21:46665946-46665947	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545186405	chr21:46665957-46665958	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140682051	chr21:46665962-46665963	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2838837	chr21:46665988-46665989	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs78998134	chr21:46666012-46666013	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368411297	chr21:46666029-46666030	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561554082	chr21:46666045-46666046	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199864144	chr21:46666048-46666049	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144569337	chr21:46666058-46666059	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369517547	chr21:46666060-46666061	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199865143	chr21:46666061-46666062	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7276103	chr21:46666078-46666079	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs78828219	chr21:46666132-46666133	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs564752093	chr21:46666147-46666148	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs370670233	chr21:46666164-46666165	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs144328052	chr21:46666169-46666170	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs73369044	chr21:46666183-46666184	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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 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
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
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
2	chr21:46664600-46665200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46665200-46666000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46665800-46666000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:46666000-46666400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:46666000-46666400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46666200-46666400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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