Variant report

Variant	esv3371755
Chromosome Location	chr21:46421574-46422872
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46419011..46421776-chr21:46438600..46440375,2	MCF-7	breast:
2	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
3	chr21:46417950..46423894-chr21:46492851..46496071,5	MCF-7	breast:
4	chr21:46422255..46425486-chr21:46493644..46496852,6	K562	blood:
5	chr21:46403435..46406407-chr21:46422534..46424245,2	MCF-7	breast:
6	chr21:46421527..46423886-chr21:46518850..46521282,2	MCF-7	breast:
7	chr21:46408147..46410991-chr21:46420082..46421856,2	K562	blood:
8	chr21:46401222..46403244-chr21:46420854..46422539,2	MCF-7	breast:
9	chr21:46409281..46411889-chr21:46420070..46422122,3	MCF-7	breast:

No data

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

Extended variants
information (count: 65 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73907216	chr21:46421614-46421615	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs881969	chr21:46421694-46421695	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs544725167	chr21:46421697-46421698	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs562998634	chr21:46421746-46421747	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs377042729	chr21:46421756-46421757	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548566078	chr21:46421789-46421790	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561449996	chr21:46421823-46421824	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs528765082	chr21:46421830-46421831	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs150662634	chr21:46421832-46421833	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571831810	chr21:46421836-46421837	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs200517393	chr21:46421847-46421848	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs386819251	chr21:46421848-46421849	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs551107244	chr21:46421849-46421850	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs181071910	chr21:46421872-46421873	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs573888036	chr21:46421877-46421878	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs534934589	chr21:46421925-46421926	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs555282894	chr21:46421997-46421998	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552964325	chr21:46422007-46422008	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs577419844	chr21:46422031-46422032	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs544794364	chr21:46422056-46422057	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs185017550	chr21:46422123-46422124	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs574971574	chr21:46422125-46422126	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs60996696	chr21:46422134-46422135	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs542248657	chr21:46422149-46422150	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs560953156	chr21:46422171-46422172	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs528045445	chr21:46422174-46422175	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs200781969	chr21:46422186-46422187	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs547271850	chr21:46422222-46422223	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs565396310	chr21:46422226-46422227	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532796855	chr21:46422263-46422264	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs551195759	chr21:46422276-46422277	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs569404614	chr21:46422280-46422281	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536730860	chr21:46422282-46422283	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs147379057	chr21:46422287-46422288	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs58314149	chr21:46422288-46422289	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs4819010	chr21:46422289-46422290	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs58638188	chr21:46422296-46422297	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs566882260	chr21:46422301-46422302	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs189729943	chr21:46422307-46422308	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs117667489	chr21:46422318-46422319	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs9980336	chr21:46422328-46422329	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375143416	chr21:46422353-46422354	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs563847888	chr21:46422355-46422356	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs538473997	chr21:46422379-46422380	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs556721093	chr21:46422380-46422381	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs575060953	chr21:46422425-46422426	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs542726133	chr21:46422453-46422454	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs181219200	chr21:46422530-46422531	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs572802522	chr21:46422553-46422554	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs539840800	chr21:46422564-46422565	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Ovarian clear cell carcinoma	21343371	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
Schizophrenia	23813976	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46402400-46421800	Enhancers	Fetal Muscle Leg	muscle
2	chr21:46414600-46423200	Weak transcription	Fetal Heart	heart
3	chr21:46414600-46431800	Weak transcription	Right Atrium	heart
4	chr21:46415000-46421800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr21:46417000-46424200	Enhancers	Spleen	Spleen
6	chr21:46419400-46421600	Bivalent Enhancer	Placenta	Placenta
7	chr21:46419600-46421800	Enhancers	Esophagus	oesophagus
8	chr21:46420000-46421600	Enhancers	Fetal Lung	lung
9	chr21:46420000-46421800	Enhancers	Right Ventricle	heart
10	chr21:46420200-46421600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr21:46420200-46421600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr21:46420400-46421800	Bivalent Enhancer	Fetal Stomach	stomach
13	chr21:46420600-46421600	Enhancers	Left Ventricle	heart
14	chr21:46420600-46421600	Enhancers	NH-A	brain
15	chr21:46420800-46421600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr21:46420800-46421800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:46420800-46421800	Flanking Active TSS	Hela-S3	cervix
18	chr21:46420800-46423400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:46421000-46421600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:46421000-46421600	Enhancers	Brain Anterior Caudate	brain
21	chr21:46421000-46421600	Enhancers	Brain Substantia Nigra	brain
22	chr21:46421000-46421800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:46421000-46421800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:46421000-46421800	Enhancers	Rectal Smooth Muscle	rectum
25	chr21:46421000-46421800	Enhancers	NHEK	skin
26	chr21:46421000-46422600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:46421000-46422800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:46421000-46424000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr21:46421200-46421600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:46421200-46421600	Enhancers	Colon Smooth Muscle	Colon
31	chr21:46421200-46421800	Enhancers	HSMM	muscle
32	chr21:46421200-46424000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:46421200-46425000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr21:46421400-46421600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr21:46421400-46421600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr21:46421400-46421800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr21:46421400-46421800	Enhancers	HMEC	breast
38	chr21:46421400-46422400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:46421400-46423000	Weak transcription	Lung	lung
40	chr21:46421400-46423400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr21:46421400-46423600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:46421400-46423600	Weak transcription	HSMMtube	muscle
43	chr21:46421400-46424600	Weak transcription	A549	lung
44	chr21:46421400-46424600	Weak transcription	HUVEC	blood vessel
45	chr21:46421600-46422600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr21:46421600-46422600	Weak transcription	Fetal Lung	lung
47	chr21:46421600-46423000	Weak transcription	Colon Smooth Muscle	Colon
48	chr21:46421600-46423200	Weak transcription	Brain Substantia Nigra	brain
49	chr21:46421600-46423400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:46421600-46423400	Weak transcription	Brain Anterior Caudate	brain

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