Variant report

Variant	esv3444952
Chromosome Location	chr21:46420749-46423497
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46398242..46400941-chr21:46419716..46421408,2	K562	blood:
2	chr21:46416275..46421174-chr21:46430809..46434600,6	MCF-7	breast:
3	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
4	chr21:46401222..46403244-chr21:46420854..46422539,2	MCF-7	breast:
5	chr21:46412545..46415871-chr21:46418558..46421141,3	K562	blood:
6	chr21:46403435..46406407-chr21:46422534..46424245,2	MCF-7	breast:
7	chr21:46422255..46425486-chr21:46493644..46496852,6	K562	blood:
8	chr21:46408147..46410991-chr21:46420082..46421856,2	K562	blood:
9	chr21:46418804..46421403-chr21:46491915..46495329,3	MCF-7	breast:
10	chr21:46409281..46411889-chr21:46420070..46422122,3	MCF-7	breast:
11	chr21:46419011..46421776-chr21:46438600..46440375,2	MCF-7	breast:
12	chr21:46421527..46423886-chr21:46518850..46521282,2	MCF-7	breast:
13	chr21:46417950..46423894-chr21:46492851..46496071,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261706	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000234880	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000235374	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs914223	chr21:46420755-46420756	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149109953	chr21:46420774-46420775	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs539373942	chr21:46420793-46420794	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs62214542	chr21:46420804-46420805	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576321045	chr21:46420844-46420845	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs192575827	chr21:46420849-46420850	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs374852872	chr21:46420850-46420851	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs369999877	chr21:46420855-46420856	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs573830651	chr21:46420866-46420867	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs546182881	chr21:46420867-46420868	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs559756381	chr21:46420874-46420875	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs184558668	chr21:46420887-46420888	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs545375025	chr21:46420911-46420912	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs9974498	chr21:46420913-46420914	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531611900	chr21:46420917-46420918	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs543674348	chr21:46420952-46420953	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs561877696	chr21:46420956-46420957	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs142953070	chr21:46420972-46420973	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs547182210	chr21:46420973-46420974	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs565730281	chr21:46420994-46420995	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs532831858	chr21:46421000-46421001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs9974585	chr21:46421038-46421039	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs550961486	chr21:46421041-46421042	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs570043056	chr21:46421054-46421055	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs147460712	chr21:46421064-46421065	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs555606778	chr21:46421080-46421081	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs567785759	chr21:46421102-46421103	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs373631529	chr21:46421112-46421113	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs377680566	chr21:46421116-46421117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs535179389	chr21:46421135-46421136	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs75760693	chr21:46421146-46421147	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138366244	chr21:46421182-46421183	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545098645	chr21:46421190-46421191	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs9974118	chr21:46421218-46421219	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575673405	chr21:46421219-46421220	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141906447	chr21:46421223-46421224	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs561920487	chr21:46421232-46421233	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs78489612	chr21:46421233-46421234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs541213152	chr21:46421272-46421273	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs528764689	chr21:46421289-46421290	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs533025232	chr21:46421293-46421294	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs371001071	chr21:46421310-46421311	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs188176977	chr21:46421314-46421315	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs114502959	chr21:46421343-46421344	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs118042123	chr21:46421356-46421357	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs549275267	chr21:46421390-46421391	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs548626979	chr21:46421437-46421438	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs567938360	chr21:46421455-46421456	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534952854	chr21:46421457-46421458	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553509051	chr21:46421458-46421459	Weak transcription Enhancers 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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46402400-46421800	Enhancers	Fetal Muscle Leg	muscle
2	chr21:46414600-46420800	Weak transcription	HSMMtube	muscle
3	chr21:46414600-46423200	Weak transcription	Fetal Heart	heart
4	chr21:46414600-46431800	Weak transcription	Right Atrium	heart
5	chr21:46415000-46421800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:46415600-46421000	Weak transcription	Lung	lung
7	chr21:46417000-46424200	Enhancers	Spleen	Spleen
8	chr21:46418000-46420800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:46418400-46421000	Enhancers	Primary B cells from cord blood	blood
10	chr21:46419400-46421600	Bivalent Enhancer	Placenta	Placenta
11	chr21:46419600-46421800	Enhancers	Esophagus	oesophagus
12	chr21:46419800-46420800	Enhancers	HMEC	breast
13	chr21:46420000-46421400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:46420000-46421400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr21:46420000-46421600	Enhancers	Fetal Lung	lung
16	chr21:46420000-46421800	Enhancers	Right Ventricle	heart
17	chr21:46420200-46420800	Enhancers	Adipose Nuclei	Adipose
18	chr21:46420200-46420800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr21:46420200-46421000	Flanking Active TSS	NHEK	skin
20	chr21:46420200-46421200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:46420200-46421200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr21:46420200-46421600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr21:46420200-46421600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr21:46420400-46420800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr21:46420400-46420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:46420400-46420800	Enhancers	Colon Smooth Muscle	Colon
27	chr21:46420400-46420800	Transcr. at gene 5' and 3'	Hela-S3	cervix
28	chr21:46420400-46420800	Enhancers	HSMM	muscle
29	chr21:46420400-46421000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:46420400-46421000	Enhancers	Fetal Thymus	thymus
31	chr21:46420400-46421400	Enhancers	HUVEC	blood vessel
32	chr21:46420400-46421800	Bivalent Enhancer	Fetal Stomach	stomach
33	chr21:46420600-46421000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:46420600-46421000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:46420600-46421000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr21:46420600-46421000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr21:46420600-46421200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:46420600-46421400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:46420600-46421400	Enhancers	Osteobl	bone
40	chr21:46420600-46421600	Enhancers	Left Ventricle	heart
41	chr21:46420600-46421600	Enhancers	NH-A	brain
42	chr21:46420800-46421000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:46420800-46421000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:46420800-46421000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr21:46420800-46421000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:46420800-46421000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr21:46420800-46421000	Flanking Active TSS	HMEC	breast
48	chr21:46420800-46421200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr21:46420800-46421200	Flanking Active TSS	HSMM	muscle
50	chr21:46420800-46421400	Enhancers	Cortex derived primary cultured neurospheres	brain

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