Variant report

Variant	esv3515526
Chromosome Location	chr21:47223277-47225849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47224097..47226924-chr21:47229345..47232171,3	K562	blood:
2	chr21:47219098..47221940-chr21:47222585..47225241,2	MCF-7	breast:
3	chr21:47220341..47222961-chr21:47224438..47226331,2	MCF-7	breast:
4	chr21:47212074..47214311-chr21:47223664..47225574,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560407982	chr21:47223282-47223283	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs547826037	chr21:47223290-47223291	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs189390045	chr21:47223354-47223355	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs111501423	chr21:47223373-47223374	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs533666237	chr21:47223378-47223379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs9985162	chr21:47223447-47223448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551828513	chr21:47223450-47223451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529071583	chr21:47223457-47223458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542856749	chr21:47223467-47223468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549036985	chr21:47223474-47223475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530378525	chr21:47223499-47223500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567040692	chr21:47223512-47223513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182072185	chr21:47223540-47223541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552554475	chr21:47223547-47223548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570955537	chr21:47223560-47223561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535882527	chr21:47223566-47223567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112129880	chr21:47223576-47223577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538913624	chr21:47223577-47223578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557006666	chr21:47223580-47223581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562422444	chr21:47223585-47223586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527653811	chr21:47223613-47223614	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs542478628	chr21:47223715-47223716	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs374066398	chr21:47223724-47223725	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs574189386	chr21:47223768-47223769	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs2839000	chr21:47223859-47223860	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs78037375	chr21:47223884-47223885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs565653153	chr21:47223898-47223899	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs146611428	chr21:47223928-47223929	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs4818799	chr21:47224031-47224032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs545662943	chr21:47224049-47224050	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs563848779	chr21:47224053-47224054	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs551126965	chr21:47224057-47224058	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs531103043	chr21:47224060-47224061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs140850425	chr21:47224080-47224081	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs549177373	chr21:47224088-47224089	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs184226407	chr21:47224111-47224112	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs188886936	chr21:47224123-47224124	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs373752797	chr21:47224124-47224125	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs546328765	chr21:47224143-47224144	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs531468289	chr21:47224148-47224149	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs536783991	chr21:47224156-47224157	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs558075485	chr21:47224198-47224199	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs376915695	chr21:47224238-47224239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73234725	chr21:47224264-47224265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573502376	chr21:47224265-47224266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73378591	chr21:47224281-47224282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569072923	chr21:47224297-47224298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145886946	chr21:47224342-47224343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554806779	chr21:47224353-47224354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35781238	chr21:47224371-47224372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47223400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:47217800-47226200	Weak transcription	Gastric	stomach
3	chr21:47217800-47229400	Weak transcription	Esophagus	oesophagus
4	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
5	chr21:47218000-47231000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea
7	chr21:47220600-47223400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:47221000-47236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:47221200-47225600	Enhancers	Fetal Thymus	thymus
10	chr21:47221200-47239800	Weak transcription	Spleen	Spleen
11	chr21:47221800-47223400	Weak transcription	Thymus	Thymus
12	chr21:47222800-47225200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:47223000-47223800	Enhancers	Fetal Stomach	stomach
14	chr21:47223200-47223400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:47223400-47224000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:47223400-47224000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:47223400-47225200	Enhancers	Thymus	Thymus
18	chr21:47223600-47224200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr21:47224000-47239000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47225000-47225600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:47225200-47225400	Genic enhancers	Thymus	Thymus
22	chr21:47225400-47226800	Strong transcription	Thymus	Thymus
23	chr21:47225600-47226800	Genic enhancers	Fetal Thymus	thymus

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