Variant report

Variant	esv3455279
Chromosome Location	chr21:46446024-46450622
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	chr21:46446924..46449567-chr21:46450451..46452982,2	MCF-7	breast:
2	chr21:46434381..46436441-chr21:46445572..46447810,2	K562	blood:
3	chr21:46450068..46453536-chr21:46454953..46460100,5	MCF-7	breast:
4	chr21:46369370..46370376-chr21:46446419..46447301,3	K562	blood:
5	chr21:46449363..46451001-chr21:46455293..46458206,2	K562	blood:
6	chr21:46446924..46449567-chr21:46450451..46452982,2	MCF-7	breast:
7	chr21:46445172..46447919-chr21:46452424..46454298,3	K562	blood:
8	chr21:46450570..46454441-chr21:46490790..46494874,4	MCF-7	breast:
9	chr21:46449255..46451183-chr21:46452644..46454339,2	K562	blood:

No data

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

Extended variants
information (count: 253 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181987770	chr21:46446035-46446036	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs539840338	chr21:46446049-46446050	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373603126	chr21:46446054-46446055	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186147700	chr21:46446068-46446069	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538090064	chr21:46446074-46446075	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556106939	chr21:46446088-46446089	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs151141895	chr21:46446097-46446098	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535228635	chr21:46446101-46446102	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553806726	chr21:46446115-46446116	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571753728	chr21:46446151-46446152	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62214552	chr21:46446171-46446172	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190627148	chr21:46446172-46446173	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576353647	chr21:46446187-46446188	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183290143	chr21:46446195-46446196	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs377475985	chr21:46446196-46446197	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs74897487	chr21:46446202-46446203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529468873	chr21:46446207-46446208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143993669	chr21:46446210-46446211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115077504	chr21:46446211-46446212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540998010	chr21:46446217-46446218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200426647	chr21:46446227-46446228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533423648	chr21:46446257-46446258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560780391	chr21:46446270-46446271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551800436	chr21:46446286-46446287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201230043	chr21:46446290-46446291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570038292	chr21:46446292-46446293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369985465	chr21:46446319-46446320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531522375	chr21:46446334-46446335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146443668	chr21:46446354-46446355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34254544	chr21:46446400-46446401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372511284	chr21:46446401-46446402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375203483	chr21:46446416-46446417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535633341	chr21:46446427-46446428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553489156	chr21:46446437-46446438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546468625	chr21:46446467-46446468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368127297	chr21:46446503-46446504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140927730	chr21:46446504-46446505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575619472	chr21:46446508-46446509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543788326	chr21:46446530-46446531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556021846	chr21:46446561-46446562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564662861	chr21:46446565-46446566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185627618	chr21:46446612-46446613	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8131832	chr21:46446618-46446619	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144761305	chr21:46446630-46446631	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533485207	chr21:46446682-46446683	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545484639	chr21:46446760-46446761	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531895572	chr21:46446764-46446765	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550011863	chr21:46446799-46446800	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563707057	chr21:46446800-46446801	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190039131	chr21:46446840-46446841	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46438600-46453000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46439400-46452200	Weak transcription	Esophagus	oesophagus
3	chr21:46440600-46449200	Weak transcription	Right Atrium	heart
4	chr21:46441600-46449400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:46442200-46450800	Weak transcription	Spleen	Spleen
6	chr21:46445400-46446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:46446000-46446200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:46446000-46446200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46446000-46446800	Enhancers	Fetal Muscle Leg	muscle
10	chr21:46446000-46447200	Enhancers	Fetal Muscle Trunk	muscle
11	chr21:46446000-46447600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46446200-46446600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46446200-46446600	Enhancers	Ovary	ovary
14	chr21:46446400-46446800	Enhancers	Aorta	Aorta
15	chr21:46446600-46447200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr21:46446600-46447200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:46446600-46447600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:46446600-46447600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:46446600-46451400	Weak transcription	Ovary	ovary
20	chr21:46446800-46447200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:46446800-46447400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:46446800-46447600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:46446800-46448600	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:46446800-46452400	Weak transcription	Aorta	Aorta
25	chr21:46447000-46447200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr21:46447000-46447200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr21:46447000-46447200	Bivalent Enhancer	HepG2	liver
28	chr21:46447000-46447200	Bivalent Enhancer	K562	blood
29	chr21:46447000-46447400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:46447000-46447600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr21:46447200-46447400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46447200-46447400	Enhancers	Fetal Lung	lung
33	chr21:46447200-46447600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr21:46447200-46447600	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr21:46447400-46449200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:46447400-46449200	Weak transcription	Fetal Lung	lung
37	chr21:46447400-46449400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:46447600-46447800	Bivalent Enhancer	HepG2	liver
39	chr21:46447600-46449200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:46447600-46449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:46447600-46449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:46447600-46449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:46447600-46449400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr21:46447600-46449800	Weak transcription	Gastric	stomach
45	chr21:46448600-46451000	Enhancers	Fetal Muscle Leg	muscle
46	chr21:46448800-46449400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:46449000-46449200	Enhancers	Fetal Stomach	stomach
48	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr21:46449200-46449400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr21:46449200-46449400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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