Variant report

Variant	esv3387657
Chromosome Location	chr21:47488647-47488917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115327597	chr21:47488649-47488650	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115947967	chr21:47488650-47488651	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199945106	chr21:47488651-47488652	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114426529	chr21:47488653-47488654	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115178887	chr21:47488654-47488655	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190169882	chr21:47488655-47488656	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144669473	chr21:47488656-47488657	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113664055	chr21:47488662-47488663	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535590558	chr21:47488670-47488671	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574457950	chr21:47488681-47488682	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71874278	chr21:47488693-47488694	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13051768	chr21:47488705-47488706	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13052201	chr21:47488706-47488707	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111220532	chr21:47488708-47488709	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138264294	chr21:47488718-47488719	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398121696	chr21:47488719-47488720	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116088751	chr21:47488729-47488730	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572496460	chr21:47488734-47488735	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540105912	chr21:47488750-47488751	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538781684	chr21:47488758-47488759	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369230690	chr21:47488766-47488767	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201959145	chr21:47488767-47488768	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377613509	chr21:47488768-47488769	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200592734	chr21:47488773-47488774	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111174499	chr21:47488775-47488776	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62652574	chr21:47488777-47488778	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544033311	chr21:47488778-47488779	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147332246	chr21:47488794-47488795	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62652575	chr21:47488795-47488796	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62652576	chr21:47488798-47488799	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201148172	chr21:47488799-47488800	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62652577	chr21:47488808-47488809	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573635036	chr21:47488810-47488811	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111167648	chr21:47488813-47488814	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540790648	chr21:47488824-47488825	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201803010	chr21:47488830-47488831	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62652578	chr21:47488833-47488834	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373340843	chr21:47488839-47488840	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377018521	chr21:47488840-47488841	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116251221	chr21:47488851-47488852	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28499225	chr21:47488853-47488854	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558887480	chr21:47488854-47488855	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111213146	chr21:47488869-47488870	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532798029	chr21:47488870-47488871	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560654496	chr21:47488880-47488881	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369660530	chr21:47488881-47488882	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139095813	chr21:47488886-47488887	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551242024	chr21:47488887-47488888	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111067128	chr21:47488916-47488917	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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	chr21:47484800-47488800	Enhancers	Ovary	ovary
2	chr21:47484800-47489400	Enhancers	Fetal Lung	lung
3	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
4	chr21:47485800-47488800	Enhancers	Fetal Heart	heart
5	chr21:47487600-47489000	Weak transcription	Fetal Kidney	kidney
6	chr21:47487600-47489400	Enhancers	Spleen	Spleen
7	chr21:47487800-47489800	Enhancers	Stomach Smooth Muscle	stomach
8	chr21:47488000-47489400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:47488000-47492000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:47488000-47492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:47488000-47498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:47488200-47489600	Enhancers	Pancreas	Pancrea
13	chr21:47488200-47490600	Enhancers	Fetal Muscle Trunk	muscle
14	chr21:47488400-47488800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:47488400-47488800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:47488400-47489000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:47488400-47489400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:47488400-47489600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47488600-47489600	Weak transcription	Fetal Muscle Leg	muscle
20	chr21:47488600-47497600	Weak transcription	NHDF-Ad	bronchial
21	chr21:47488800-47489200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:47488800-47489400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr21:47488800-47489800	Weak transcription	Ovary	ovary

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