Variant report

Variant	esv3412293
Chromosome Location	chr21:46474746-46475493
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46471253..46475067-chr21:46492692..46495529,4	MCF-7	breast:
2	chr21:46474464..46475039-chr21:46493072..46493764,2	MCF-7	breast:
3	chr21:46461656..46464324-chr21:46472065..46476080,4	K562	blood:
4	chr21:46364819..46367471-chr21:46472297..46474771,2	K562	blood:
5	chr21:46473237..46476363-chr21:46488566..46491608,3	MCF-7	breast:
6	chr21:46472629..46476505-chr21:46493480..46496776,4	K562	blood:
7	chr21:46473847..46475592-chr21:46476375..46478066,2	MCF-7	breast:
8	chr21:46467385..46475999-chr21:46491097..46497836,11	MCF-7	breast:
9	chr21:46474279..46475026-chr21:46493041..46493703,3	MCF-7	breast:
10	chr21:46451651..46453473-chr21:46473060..46475568,2	MCF-7	breast:
11	chr21:46469388..46471980-chr21:46473841..46475742,2	K562	blood:
12	chr21:46473225..46475340-chr21:46488258..46490065,2	K562	blood:
13	chr21:46467500..46469724-chr21:46474890..46477329,2	MCF-7	breast:
14	chr21:46474348..46475026-chr21:46493041..46493788,3	MCF-7	breast:
15	chr21:46432809..46434557-chr21:46475322..46477868,2	MCF-7	breast:

No data

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

Extended variants
information (count: 54 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570022011	chr21:46474749-46474750	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs376747909	chr21:46474794-46474795	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs193192367	chr21:46474820-46474821	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs544921401	chr21:46474850-46474851	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555325635	chr21:46474911-46474912	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs563146279	chr21:46474920-46474921	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs535358070	chr21:46474931-46474932	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs553589489	chr21:46474945-46474946	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs149338853	chr21:46474955-46474956	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs140123928	chr21:46474956-46474957	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs79772385	chr21:46474957-46474958	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs370073899	chr21:46474980-46474981	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs56031820	chr21:46474983-46474984	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs55936424	chr21:46474984-46474985	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs571920645	chr21:46474993-46474994	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs372166741	chr21:46475023-46475024	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs55929601	chr21:46475028-46475029	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs73230635	chr21:46475036-46475037	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs200287412	chr21:46475040-46475041	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs201407296	chr21:46475041-46475042	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs545634819	chr21:46475059-46475060	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs542423901	chr21:46475061-46475062	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs185099216	chr21:46475062-46475063	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs576022580	chr21:46475070-46475071	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs543441549	chr21:46475080-46475081	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs527781835	chr21:46475104-46475105	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs561648775	chr21:46475112-46475113	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs73230636	chr21:46475145-46475146	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs190740510	chr21:46475154-46475155	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs562861428	chr21:46475155-46475156	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs564514369	chr21:46475195-46475196	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs377036132	chr21:46475225-46475226	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529009903	chr21:46475226-46475227	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs533593190	chr21:46475237-46475238	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs551645976	chr21:46475248-46475249	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs115111971	chr21:46475251-46475252	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs530886718	chr21:46475256-46475257	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs531571560	chr21:46475281-46475282	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs116581256	chr21:46475287-46475288	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs567312030	chr21:46475289-46475290	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs138752244	chr21:46475296-46475297	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs114323201	chr21:46475311-46475312	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs565808413	chr21:46475326-46475327	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs539636811	chr21:46475364-46475365	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs557655665	chr21:46475369-46475370	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs73230637	chr21:46475373-46475374	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs56384163	chr21:46475396-46475397	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547568329	chr21:46475401-46475402	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs555445172	chr21:46475405-46475406	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs573680628	chr21:46475444-46475445	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46455200-46474800	Weak transcription	Right Atrium	heart
2	chr21:46465600-46474800	Weak transcription	Aorta	Aorta
3	chr21:46468800-46474800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:46470600-46474800	Weak transcription	Right Ventricle	heart
5	chr21:46471600-46484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:46471800-46474800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:46471800-46474800	Weak transcription	Gastric	stomach
8	chr21:46471800-46474800	Weak transcription	Pancreas	Pancrea
9	chr21:46471800-46474800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr21:46471800-46475800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:46471800-46478000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46471800-46480200	Weak transcription	Lung	lung
13	chr21:46472200-46475800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:46473200-46474800	Enhancers	Stomach Mucosa	stomach
15	chr21:46473200-46476800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:46473400-46476000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr21:46473800-46475200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:46473800-46475200	Bivalent Enhancer	Placenta	Placenta
19	chr21:46474000-46474800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr21:46474000-46475800	Weak transcription	HSMM	muscle
21	chr21:46474200-46474800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:46474200-46475000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr21:46474200-46475800	Weak transcription	HSMMtube	muscle
24	chr21:46474200-46476000	Weak transcription	Fetal Lung	lung
25	chr21:46474400-46475000	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr21:46474600-46474800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:46474600-46474800	Enhancers	Fetal Brain Female	brain
28	chr21:46474600-46475200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:46474600-46475200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr21:46474600-46477400	Enhancers	Fetal Brain Male	brain
31	chr21:46474800-46475000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:46474800-46475000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr21:46474800-46475000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:46474800-46475000	Bivalent Enhancer	Esophagus	oesophagus
35	chr21:46474800-46475000	Bivalent Enhancer	Psoas Muscle	Psoas
36	chr21:46474800-46475000	Enhancers	Right Atrium	heart
37	chr21:46474800-46475000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr21:46474800-46475200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:46474800-46475200	Enhancers	Aorta	Aorta
40	chr21:46474800-46475200	Bivalent Enhancer	Colonic Mucosa	Colon
41	chr21:46474800-46475200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr21:46474800-46475200	Flanking Bivalent TSS/Enh	Gastric	stomach
43	chr21:46474800-46475200	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
44	chr21:46474800-46475200	Enhancers	Right Ventricle	heart
45	chr21:46474800-46475200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr21:46474800-46475200	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr21:46474800-46475200	Flanking Bivalent TSS/Enh	Spleen	Spleen
48	chr21:46474800-46476000	Weak transcription	Fetal Brain Female	brain
49	chr21:46474800-46476400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:46475000-46475200	Bivalent Enhancer	Adipose Nuclei	Adipose

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