Variant report

Variant	esv3440380
Chromosome Location	chr21:46800052-46800593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr21:46800056-46800534	HepG2	liver:	n/a	n/a
2	MYC	chr21:46800003-46800060	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr21:46800049-46800119	MCF-7	breast:	n/a	n/a
4	NR3C1	chr21:46800032-46800489	A549	lung:	n/a	n/a
5	NR3C1	chr21:46799906-46800539	A549	lung:	n/a	n/a
6	NR3C1	chr21:46800027-46800421	A549	lung:	n/a	n/a
7	PAX5	chr21:46800040-46800529	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:46800577-46800785	MCF-7	breast:	n/a	n/a
9	POLR2A	chr21:46800006-46800054	MCF-7	breast:	n/a	n/a
10	POLR2A	chr21:46799926-46800172	MCF-7	breast:	n/a	n/a
11	POU2F2	chr21:46800008-46800561	GM12878	blood:	n/a	n/a
12	REST	chr21:46799984-46800557	PANC-1	pancreas:	n/a	n/a
13	TCF3	chr21:46799948-46800560	GM12878	blood:	n/a	n/a
14	ZBTB33	chr21:46800062-46800461	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46743301..46745333-chr21:46800514..46802613,2	MCF-7	breast:
2	chr21:46711095..46714807-chr21:46800343..46802512,3	MCF-7	breast:
3	chr21:46786827..46788871-chr21:46799843..46802359,2	MCF-7	breast:
4	chr21:46737653..46759617-chr21:46790778..46832239,260	MCF-7	breast:
5	chr21:46435738..46437845-chr21:46799987..46802608,2	K562	blood:
6	chr21:46783218..46786077-chr21:46800000..46803414,3	MCF-7	breast:
7	chr21:46800012..46801614-chr21:46802538..46805241,2	K562	blood:

No data

Variant related genes	Relation type
MTCO1P3	TF binding region
ENSG00000228355	TF binding region
ENSG00000229382	chromatin interactions
ENSG00000223768	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528292616	chr21:46800072-46800073	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs146999746	chr21:46800110-46800111	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs9680392	chr21:46800113-46800114	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs59793661	chr21:46800118-46800119	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs112339807	chr21:46800123-46800124	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs182071332	chr21:46800127-46800128	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs116661345	chr21:46800137-46800138	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs56908540	chr21:46800158-46800159	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569997810	chr21:46800163-46800164	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35523386	chr21:46800179-46800180	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs537082791	chr21:46800185-46800186	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs34662688	chr21:46800191-46800192	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs59983800	chr21:46800229-46800230	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs60892227	chr21:46800235-46800236	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374267256	chr21:46800242-46800243	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs555806411	chr21:46800244-46800245	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs61496146	chr21:46800245-46800246	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs34412205	chr21:46800257-46800258	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs59820042	chr21:46800267-46800268	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs370197619	chr21:46800274-46800275	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs35871257	chr21:46800279-46800280	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550566137	chr21:46800280-46800281	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs34625028	chr21:46800310-46800311	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs35839579	chr21:46800314-46800315	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368468769	chr21:46800325-46800326	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534581186	chr21:46800332-46800333	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs371949892	chr21:46800337-46800338	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs10552002	chr21:46800344-46800345	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs35156193	chr21:46800349-46800350	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs62216264	chr21:46800384-46800385	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs541215636	chr21:46800404-46800405	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs372944987	chr21:46800451-46800452	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs376463479	chr21:46800452-46800453	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs57700331	chr21:46800456-46800457	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs577817861	chr21:46800465-46800466	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs200481562	chr21:46800485-46800486	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs545263230	chr21:46800490-46800491	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs563862800	chr21:46800495-46800496	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs142377578	chr21:46800499-46800500	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs111657382	chr21:46800501-46800502	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs542305025	chr21:46800503-46800504	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs113600242	chr21:46800509-46800510	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs112785506	chr21:46800512-46800513	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs561032771	chr21:46800560-46800561	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs533241101	chr21:46800562-46800563	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46787600-46806800	Weak transcription	Right Atrium	heart
2	chr21:46793400-46806400	Weak transcription	Esophagus	oesophagus
3	chr21:46798200-46807600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:46798400-46800200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46798400-46800200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46798600-46800800	Enhancers	Pancreas	Pancrea
7	chr21:46798800-46800400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:46798800-46800400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:46799600-46803400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr21:46799800-46800200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:46799800-46803600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:46800000-46800800	Enhancers	Right Ventricle	heart
13	chr21:46800000-46801000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:46800200-46801200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:46800200-46803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:46800200-46805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:46800400-46800600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr21:46800400-46800800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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