Variant report

Variant	esv3421029
Chromosome Location	chr21:47425474-47426772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544096880	chr21:47425475-47425476	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557338996	chr21:47425516-47425517	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57489338	chr21:47425520-47425521	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57450934	chr21:47425547-47425548	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530019896	chr21:47425555-47425556	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560939752	chr21:47425582-47425583	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569008682	chr21:47425600-47425601	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529358216	chr21:47425629-47425630	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541168722	chr21:47425647-47425648	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546557673	chr21:47425649-47425650	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35628168	chr21:47425656-47425657	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192202780	chr21:47425680-47425681	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151121950	chr21:47425684-47425685	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539491175	chr21:47425722-47425723	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555441975	chr21:47425727-47425728	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551639241	chr21:47425777-47425778	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4647798	chr21:47425796-47425797	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199723664	chr21:47425797-47425798	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369148857	chr21:47425821-47425822	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372701102	chr21:47425827-47425828	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112887512	chr21:47425836-47425837	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs8130308	chr21:47425843-47425844	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570048888	chr21:47425845-47425846	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36114113	chr21:47425854-47425855	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531128701	chr21:47425867-47425868	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569345723	chr21:47425869-47425870	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9978727	chr21:47425876-47425877	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35875719	chr21:47425881-47425882	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34158325	chr21:47425884-47425885	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549529690	chr21:47425900-47425901	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34088549	chr21:47425908-47425909	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34031949	chr21:47425913-47425914	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57533276	chr21:47425917-47425918	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60184340	chr21:47425941-47425942	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59111837	chr21:47425950-47425951	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8134782	chr21:47425956-47425957	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58807090	chr21:47425973-47425974	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28622331	chr21:47425983-47425984	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62215505	chr21:47425984-47425985	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11702199	chr21:47425986-47425987	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377225107	chr21:47425995-47425996	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11702200	chr21:47426002-47426003	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28545071	chr21:47426005-47426006	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58881227	chr21:47426015-47426016	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61063973	chr21:47426029-47426030	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184719474	chr21:47426030-47426031	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552831429	chr21:47426033-47426034	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60925514	chr21:47426034-47426035	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57940224	chr21:47426037-47426038	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59082759	chr21:47426044-47426045	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:47408400-47425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:47409800-47426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
5	chr21:47412400-47426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr21:47412600-47425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr21:47416400-47425800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:47416600-47425600	Weak transcription	Pancreas	Pancrea
9	chr21:47419400-47426600	Weak transcription	NH-A	brain
10	chr21:47420000-47426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:47420200-47425800	Strong transcription	Fetal Stomach	stomach
12	chr21:47420400-47429400	Weak transcription	Fetal Lung	lung
13	chr21:47420600-47427800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:47422600-47425600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:47422600-47426000	Weak transcription	HSMMtube	muscle
16	chr21:47422800-47438800	Weak transcription	Colon Smooth Muscle	Colon
17	chr21:47423000-47425800	Weak transcription	Colonic Mucosa	Colon
18	chr21:47423000-47426400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:47423200-47426400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr21:47423800-47425600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:47423800-47425800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:47423800-47426400	Weak transcription	Lung	lung
23	chr21:47423800-47427000	Weak transcription	Gastric	stomach
24	chr21:47423800-47428800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr21:47424000-47425600	Weak transcription	Placenta	Placenta
26	chr21:47424000-47427000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr21:47424000-47432800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:47424200-47426000	Weak transcription	Liver	Liver
29	chr21:47424200-47426400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr21:47424200-47426400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr21:47424200-47426800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr21:47424400-47426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:47424600-47427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:47424600-47427400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:47424600-47427400	Weak transcription	Adipose Nuclei	Adipose
36	chr21:47424600-47434400	Weak transcription	Aorta	Aorta
37	chr21:47424800-47425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:47424800-47426400	Weak transcription	Brain Germinal Matrix	brain
39	chr21:47424800-47426600	Weak transcription	Left Ventricle	heart
40	chr21:47424800-47427800	Weak transcription	Esophagus	oesophagus
41	chr21:47424800-47430200	Weak transcription	Fetal Brain Female	brain
42	chr21:47424800-47431400	Weak transcription	Right Ventricle	heart
43	chr21:47425000-47425800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:47425200-47426400	Weak transcription	Spleen	Spleen
45	chr21:47425200-47426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr21:47425200-47427000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:47425200-47427000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr21:47425200-47427000	Weak transcription	Osteobl	bone
49	chr21:47425200-47427200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr21:47425200-47427600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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