Variant report

Variant	esv13808
Chromosome Location	chr21:47425860-47426395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531128701	chr21:47425867-47425868	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569345723	chr21:47425869-47425870	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9978727	chr21:47425876-47425877	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35875719	chr21:47425881-47425882	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34158325	chr21:47425884-47425885	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549529690	chr21:47425900-47425901	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34088549	chr21:47425908-47425909	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34031949	chr21:47425913-47425914	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57533276	chr21:47425917-47425918	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60184340	chr21:47425941-47425942	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59111837	chr21:47425950-47425951	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs8134782	chr21:47425956-47425957	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58807090	chr21:47425973-47425974	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28622331	chr21:47425983-47425984	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62215505	chr21:47425984-47425985	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11702199	chr21:47425986-47425987	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377225107	chr21:47425995-47425996	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11702200	chr21:47426002-47426003	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28545071	chr21:47426005-47426006	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58881227	chr21:47426015-47426016	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61063973	chr21:47426029-47426030	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184719474	chr21:47426030-47426031	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552831429	chr21:47426033-47426034	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60925514	chr21:47426034-47426035	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57940224	chr21:47426037-47426038	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59082759	chr21:47426044-47426045	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11702204	chr21:47426048-47426049	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571257963	chr21:47426050-47426051	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113765216	chr21:47426051-47426052	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62215506	chr21:47426067-47426068	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62215507	chr21:47426070-47426071	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56931870	chr21:47426081-47426082	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59792679	chr21:47426088-47426089	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4818814	chr21:47426121-47426122	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13049503	chr21:47426132-47426133	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538663459	chr21:47426140-47426141	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71319705	chr21:47426141-47426142	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4818815	chr21:47426153-47426154	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575575442	chr21:47426157-47426158	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369431435	chr21:47426161-47426162	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74354444	chr21:47426179-47426180	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28699187	chr21:47426186-47426187	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13049596	chr21:47426202-47426203	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542578568	chr21:47426205-47426206	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28575554	chr21:47426219-47426220	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35312714	chr21:47426235-47426236	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185043124	chr21:47426237-47426238	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113508203	chr21:47426248-47426249	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13046540	chr21:47426252-47426253	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572995932	chr21:47426254-47426255	Weak transcription ZNF genes & repeats Genic enhancers	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47409800-47426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
3	chr21:47412400-47426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:47419400-47426600	Weak transcription	NH-A	brain
5	chr21:47420000-47426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:47420400-47429400	Weak transcription	Fetal Lung	lung
7	chr21:47420600-47427800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:47422600-47426000	Weak transcription	HSMMtube	muscle
9	chr21:47422800-47438800	Weak transcription	Colon Smooth Muscle	Colon
10	chr21:47423000-47426400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:47423200-47426400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr21:47423800-47426400	Weak transcription	Lung	lung
13	chr21:47423800-47427000	Weak transcription	Gastric	stomach
14	chr21:47423800-47428800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr21:47424000-47427000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:47424000-47432800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:47424200-47426000	Weak transcription	Liver	Liver
18	chr21:47424200-47426400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr21:47424200-47426400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr21:47424200-47426800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:47424400-47426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:47424600-47427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:47424600-47427400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:47424600-47427400	Weak transcription	Adipose Nuclei	Adipose
25	chr21:47424600-47434400	Weak transcription	Aorta	Aorta
26	chr21:47424800-47426400	Weak transcription	Brain Germinal Matrix	brain
27	chr21:47424800-47426600	Weak transcription	Left Ventricle	heart
28	chr21:47424800-47427800	Weak transcription	Esophagus	oesophagus
29	chr21:47424800-47430200	Weak transcription	Fetal Brain Female	brain
30	chr21:47424800-47431400	Weak transcription	Right Ventricle	heart
31	chr21:47425200-47426400	Weak transcription	Spleen	Spleen
32	chr21:47425200-47426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:47425200-47427000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr21:47425200-47427000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr21:47425200-47427000	Weak transcription	Osteobl	bone
36	chr21:47425200-47427200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr21:47425200-47427600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr21:47425200-47427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:47425200-47427600	Weak transcription	NHLF	lung
40	chr21:47425200-47428800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:47425200-47428800	Weak transcription	Ovary	ovary
42	chr21:47425200-47431600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:47425200-47431600	Weak transcription	NHDF-Ad	bronchial
44	chr21:47425200-47432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:47425400-47426000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr21:47425400-47426200	Weak transcription	Fetal Intestine Small	intestine
47	chr21:47425400-47426800	Weak transcription	Fetal Muscle Leg	muscle
48	chr21:47425400-47427000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:47425400-47427000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:47425400-47427600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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