Variant report

Variant	esv3353033
Chromosome Location	chr21:46529031-46529303
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
2	chr21:46525704..46527706-chr21:46528472..46530391,2	K562	blood:
3	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:
4	chr21:46515956..46522233-chr21:46528087..46531013,7	K562	blood:
5	chr21:46527215..46529238-chr21:46529546..46531877,2	MCF-7	breast:
6	chr21:46528737..46532394-chr21:46532848..46536874,5	K562	blood:
7	chr21:46527019..46529206-chr21:46534528..46536813,2	MCF-7	breast:
8	chr21:46502343..46504540-chr21:46529179..46531267,2	K562	blood:
9	chr21:46522238..46524278-chr21:46526397..46529123,2	MCF-7	breast:
10	chr21:46527903..46530135-chr21:46532581..46534213,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197381	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000267857	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541359385	chr21:46529039-46529040	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs545278379	chr21:46529048-46529049	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs560446919	chr21:46529051-46529052	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs557550629	chr21:46529061-46529062	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs377212151	chr21:46529062-46529063	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs575827903	chr21:46529065-46529066	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs543120695	chr21:46529069-46529070	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs147643316	chr21:46529074-46529075	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs186492652	chr21:46529085-46529086	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs541362102	chr21:46529087-46529088	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs375956458	chr21:46529090-46529091	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs409738	chr21:46529097-46529098	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs559390458	chr21:46529102-46529103	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs431560	chr21:46529112-46529113	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs66557713	chr21:46529114-46529115	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs35140005	chr21:46529117-46529118	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs61118366	chr21:46529118-46529119	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs533213941	chr21:46529123-46529124	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs114117165	chr21:46529127-46529128	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs111550655	chr21:46529135-46529136	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs530548319	chr21:46529136-46529137	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs549207265	chr21:46529151-46529152	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs548654861	chr21:46529157-46529158	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs117248790	chr21:46529159-46529160	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs534322814	chr21:46529160-46529161	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs546530731	chr21:46529161-46529162	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs369345108	chr21:46529162-46529163	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs372863012	chr21:46529163-46529164	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs539287836	chr21:46529164-46529165	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs67635476	chr21:46529173-46529174	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs57794933	chr21:46529183-46529184	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs374387595	chr21:46529184-46529185	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs397820460	chr21:46529185-46529186	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113868095	chr21:46529186-46529187	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs575888681	chr21:46529188-46529189	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs371926304	chr21:46529192-46529193	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs536782732	chr21:46529196-46529197	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs116997326	chr21:46529198-46529199	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs573240497	chr21:46529199-46529200	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs540275736	chr21:46529201-46529202	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs565248748	chr21:46529205-46529206	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs431775	chr21:46529207-46529208	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112071551	chr21:46529227-46529228	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs544882229	chr21:46529230-46529231	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs563176856	chr21:46529231-46529232	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs530611267	chr21:46529232-46529233	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs439077	chr21:46529235-46529236	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs140518083	chr21:46529242-46529243	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs535004014	chr21:46529269-46529270	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs546944367	chr21:46529277-46529278	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	21858162	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
Williams-beuren syndrome	16826523	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:46522800-46529600	Weak transcription	NH-A	brain
5	chr21:46523000-46529200	Weak transcription	Colonic Mucosa	Colon
6	chr21:46523000-46529400	Weak transcription	NHLF	lung
7	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:46524600-46529200	Enhancers	Primary B cells from cord blood	blood
10	chr21:46524800-46529400	Enhancers	Primary B cells from peripheral blood	blood
11	chr21:46525000-46529200	Weak transcription	Liver	Liver
12	chr21:46525000-46529200	Weak transcription	Brain Hippocampus Middle	brain
13	chr21:46525000-46533600	Weak transcription	NHEK	skin
14	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:46525800-46534000	Weak transcription	HMEC	breast
17	chr21:46526000-46529200	Weak transcription	Osteobl	bone
18	chr21:46526000-46529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr21:46526200-46529200	Weak transcription	K562	blood
20	chr21:46526400-46529200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46526400-46529400	Weak transcription	Brain Angular Gyrus	brain
22	chr21:46526400-46531600	Weak transcription	Hela-S3	cervix
23	chr21:46526400-46533600	Weak transcription	Fetal Stomach	stomach
24	chr21:46526400-46534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
26	chr21:46526600-46529200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr21:46526600-46529200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr21:46526600-46529600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:46526800-46529200	Weak transcription	Aorta	Aorta
30	chr21:46526800-46529600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:46526800-46531600	Weak transcription	Psoas Muscle	Psoas
32	chr21:46526800-46536400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr21:46527000-46529200	Weak transcription	Primary T cells from cord blood	blood
34	chr21:46527000-46529200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:46527000-46531800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr21:46527800-46529400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:46528200-46529400	Enhancers	Fetal Heart	heart
38	chr21:46528400-46529200	Enhancers	Primary hematopoietic stem cells	blood
39	chr21:46528400-46529200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr21:46528400-46529200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr21:46528400-46529400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr21:46528400-46529400	Enhancers	HUVEC	blood vessel
43	chr21:46528400-46529600	Enhancers	Lung	lung
44	chr21:46528600-46529200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr21:46528600-46530400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr21:46528600-46531000	Enhancers	HSMMtube	muscle
47	chr21:46528800-46529200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:46528800-46529200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr21:46528800-46529200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr21:46528800-46529200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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