Variant report

Variant	esv3328167
Chromosome Location	chr21:47424549-47427497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47427326..47428898-chr21:47432670..47434533,2	K562	blood:
2	chr21:47427092..47429709-chr21:47442410..47444749,2	K562	blood:

Extended variants
information (count: 203 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563496247	chr21:47424555-47424556	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs140701644	chr21:47424561-47424562	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs79525510	chr21:47424569-47424570	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs568352795	chr21:47424586-47424587	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs535890172	chr21:47424601-47424602	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs62215504	chr21:47424625-47424626	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs201623355	chr21:47424656-47424657	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs148562276	chr21:47424657-47424658	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs539757231	chr21:47424687-47424688	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs557900713	chr21:47424712-47424713	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs576240028	chr21:47424724-47424725	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs536742577	chr21:47424732-47424733	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs373866452	chr21:47424734-47424735	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs555092271	chr21:47424742-47424743	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs560938147	chr21:47424795-47424796	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs142905348	chr21:47424814-47424815	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs541056049	chr21:47424849-47424850	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs115463773	chr21:47424850-47424851	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs577842683	chr21:47424853-47424854	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs545323453	chr21:47424867-47424868	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs11553520	chr21:47424873-47424874	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs563432009	chr21:47424926-47424927	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs370628436	chr21:47424930-47424931	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs550295195	chr21:47424935-47424936	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs562235067	chr21:47424946-47424947	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs112945871	chr21:47425001-47425002	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187916651	chr21:47425035-47425036	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547732737	chr21:47425041-47425042	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565960497	chr21:47425124-47425125	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539705822	chr21:47425134-47425135	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531496078	chr21:47425138-47425139	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569914403	chr21:47425145-47425146	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537278258	chr21:47425147-47425148	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565022981	chr21:47425251-47425252	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34053239	chr21:47425264-47425265	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555154065	chr21:47425283-47425284	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573647434	chr21:47425319-47425320	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368242170	chr21:47425358-47425359	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529295479	chr21:47425359-47425360	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371302184	chr21:47425385-47425386	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150500844	chr21:47425396-47425397	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530777224	chr21:47425397-47425398	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56340619	chr21:47425432-47425433	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544169405	chr21:47425438-47425439	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577720366	chr21:47425453-47425454	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545312259	chr21:47425466-47425467	Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	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
48	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
49	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
50	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

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
2	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
4	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
11	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:47407600-47425000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr21:47408400-47425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:47409000-47425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr21:47409200-47425000	Strong transcription	Ovary	ovary
17	chr21:47409800-47426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
19	chr21:47412400-47426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr21:47412600-47425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:47413800-47425200	Strong transcription	NHLF	lung
22	chr21:47414200-47424800	Strong transcription	Right Ventricle	heart
23	chr21:47414800-47425200	Strong transcription	Osteobl	bone
24	chr21:47415200-47425200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:47415400-47424600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:47415400-47424600	Strong transcription	Adipose Nuclei	Adipose
27	chr21:47415400-47425000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:47415400-47425000	Weak transcription	Brain Anterior Caudate	brain
29	chr21:47415600-47425400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:47416000-47425400	Strong transcription	Fetal Intestine Small	intestine
31	chr21:47416200-47425200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr21:47416400-47425200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:47416400-47425400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:47416400-47425800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:47416600-47425600	Weak transcription	Pancreas	Pancrea
36	chr21:47416800-47425200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr21:47417400-47424600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:47418400-47425000	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr21:47419000-47425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:47419400-47426600	Weak transcription	NH-A	brain
41	chr21:47419800-47425200	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr21:47420000-47426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:47420200-47425800	Strong transcription	Fetal Stomach	stomach
44	chr21:47420400-47429400	Weak transcription	Fetal Lung	lung
45	chr21:47420600-47425400	Strong transcription	Fetal Muscle Leg	muscle
46	chr21:47420600-47427800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:47420800-47424800	Strong transcription	Brain Germinal Matrix	brain
48	chr21:47421000-47425000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr21:47421400-47424800	Strong transcription	Left Ventricle	heart
50	chr21:47422600-47425600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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