Variant report

Variant	esv15585
Chromosome Location	chr21:46654099-46654729
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	CTCF	chr21:46654455-46654552	H1-hESC	embryonic stem cell:	n/a	chr21:46654501-46654519 chr21:46654504-46654517
2	EGR1	chr21:46654035-46654301	GM12878	blood:	n/a	chr21:46654193-46654207
3	EGR1	chr21:46654451-46654729	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr21:46653982-46654312	K562	blood:	n/a	chr21:46654193-46654207
5	EGR1	chr21:46654362-46654734	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr21:46653973-46654276	K562	blood:	n/a	chr21:46654193-46654207
7	ELF1	chr21:46654007-46654271	K562	blood:	n/a	chr21:46654216-46654229 chr21:46654190-46654203 chr21:46654203-46654216
8	ELF1	chr21:46653998-46654585	GM12878	blood:	n/a	chr21:46654216-46654229 chr21:46654190-46654203 chr21:46654203-46654216
9	ELF1	chr21:46654024-46654341	K562	blood:	n/a	chr21:46654216-46654229 chr21:46654190-46654203 chr21:46654203-46654216
10	GABPA	chr21:46653994-46654497	K562	blood:	n/a	n/a
11	POLR2A	chr21:46654173-46655132	Hela-S3	cervix:	n/a	n/a
12	YY1	chr21:46654059-46654394	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr21:46654044-46654253	GM12878	blood:	n/a	n/a
14	YY1	chr21:46654028-46654286	K562	blood:	n/a	n/a
15	YY1	chr21:46654091-46654367	K562	blood:	n/a	n/a
16	ZNF143	chr21:46654234-46654304	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-2	chr21:46654267-46654421	XLOC_013979
2	lnc-ADARB1-2	chr21:46654255-46654391	ENSG00000182586.3

Variant related genes	Relation type
LINC00334	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539585129	chr21:46654099-46654100	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551518461	chr21:46654120-46654121	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569918400	chr21:46654128-46654129	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs386819273	chr21:46654146-46654147	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs114952736	chr21:46654147-46654148	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533038566	chr21:46654157-46654158	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs373194401	chr21:46654161-46654162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574304548	chr21:46654165-46654166	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537988669	chr21:46654172-46654173	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556298207	chr21:46654176-46654177	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201799986	chr21:46654180-46654181	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs185758223	chr21:46654181-46654182	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373305618	chr21:46654184-46654185	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs67985055	chr21:46654193-46654194	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs554903137	chr21:46654218-46654219	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535117866	chr21:46654223-46654224	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs56974964	chr21:46654230-46654231	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs57618026	chr21:46654271-46654272	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
19	rs145973743	chr21:46654272-46654273	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575362395	chr21:46654286-46654287	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
21	rs138559305	chr21:46654292-46654293	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
22	rs189325206	chr21:46654316-46654317	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
23	rs116518215	chr21:46654336-46654337	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
24	rs180946290	chr21:46654349-46654350	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
25	rs116390406	chr21:46654381-46654382	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
26	rs185124573	chr21:46654406-46654407	Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs3753016	chr21:46654418-46654419	Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	mRNA abundance
28	rs573483445	chr21:46654433-46654434	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs78073745	chr21:46654442-46654443	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530989940	chr21:46654481-46654482	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113711576	chr21:46654511-46654512	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567855313	chr21:46654569-46654570	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528516900	chr21:46654602-46654603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115739106	chr21:46654612-46654613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3753017	chr21:46654629-46654630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs3753018	chr21:46654647-46654648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116611521	chr21:46654665-46654666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557075142	chr21:46654709-46654710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6518219	chr21:46654717-46654718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
2	chr21:46643800-46664600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46648800-46654200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr21:46648800-46654600	Weak transcription	Fetal Brain Male	brain
5	chr21:46648800-46656400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:46652200-46654800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:46652800-46655800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:46654000-46654200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:46654000-46654400	Flanking Bivalent TSS/Enh	Placenta	Placenta
10	chr21:46654000-46654400	Active TSS	GM12878-XiMat	blood
11	chr21:46654000-46654600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:46654200-46654400	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
13	chr21:46654200-46654600	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr21:46654600-46655200	Enhancers	Fetal Brain Male	brain

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