Variant report

Variant	esv3367267
Chromosome Location	chr21:47488945-47489340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529362404	chr21:47488954-47488955	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111065072	chr21:47488963-47488964	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374296565	chr21:47488970-47488971	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142862773	chr21:47488974-47488975	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566065030	chr21:47488980-47488981	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539887166	chr21:47488981-47488982	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117820273	chr21:47488983-47488984	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570286623	chr21:47488984-47488985	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117356310	chr21:47488989-47488990	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537345344	chr21:47488995-47488996	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116784521	chr21:47488999-47489000	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201257110	chr21:47489000-47489001	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116566581	chr21:47489003-47489004	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555900875	chr21:47489009-47489010	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111220556	chr21:47489014-47489015	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574167224	chr21:47489016-47489017	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540708881	chr21:47489034-47489035	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115039087	chr21:47489035-47489036	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28972505	chr21:47489049-47489050	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143303554	chr21:47489050-47489051	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146585976	chr21:47489056-47489057	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530789471	chr21:47489057-47489058	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151329216	chr21:47489059-47489060	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561104990	chr21:47489065-47489066	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62652581	chr21:47489074-47489075	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547907312	chr21:47489079-47489080	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572621071	chr21:47489086-47489087	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61162693	chr21:47489095-47489096	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533472559	chr21:47489097-47489098	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551749389	chr21:47489103-47489104	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375371673	chr21:47489104-47489105	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569971974	chr21:47489110-47489111	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59746074	chr21:47489112-47489113	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7410208	chr21:47489122-47489123	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555819305	chr21:47489126-47489127	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4819195	chr21:47489138-47489139	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542916596	chr21:47489155-47489156	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368234418	chr21:47489156-47489157	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142348376	chr21:47489157-47489158	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28541384	chr21:47489161-47489162	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561635462	chr21:47489168-47489169	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151053750	chr21:47489169-47489170	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374344618	chr21:47489175-47489176	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567824271	chr21:47489177-47489178	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11910198	chr21:47489179-47489180	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60061684	chr21:47489180-47489181	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11910320	chr21:47489182-47489183	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59463875	chr21:47489183-47489184	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534935501	chr21:47489191-47489192	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11089046	chr21:47489201-47489202	ZNF genes & repeats Active TSS Enhancers Weak transcription	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47484800-47489400	Enhancers	Fetal Lung	lung
2	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
3	chr21:47487600-47489000	Weak transcription	Fetal Kidney	kidney
4	chr21:47487600-47489400	Enhancers	Spleen	Spleen
5	chr21:47487800-47489800	Enhancers	Stomach Smooth Muscle	stomach
6	chr21:47488000-47489400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:47488000-47492000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:47488000-47492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47488000-47498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:47488200-47489600	Enhancers	Pancreas	Pancrea
11	chr21:47488200-47490600	Enhancers	Fetal Muscle Trunk	muscle
12	chr21:47488400-47489000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:47488400-47489400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:47488400-47489600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:47488600-47489600	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:47488600-47497600	Weak transcription	NHDF-Ad	bronchial
17	chr21:47488800-47489200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:47488800-47489400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr21:47488800-47489800	Weak transcription	Ovary	ovary
20	chr21:47489000-47489200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:47489000-47489200	Enhancers	Fetal Kidney	kidney
22	chr21:47489000-47489400	Enhancers	Gastric	stomach
23	chr21:47489000-47489600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr21:47489200-47489400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:47489200-47489400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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