Variant report

Variant	esv13063
Chromosome Location	chr21:47823108-47824123
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	chr21:47822069..47824490-chr21:47825069..47828475,3	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549553425	chr21:47823119-47823120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374531556	chr21:47823124-47823125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552266066	chr21:47823144-47823145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528837407	chr21:47823145-47823146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376038355	chr21:47823150-47823151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12482066	chr21:47823200-47823201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547301005	chr21:47823203-47823204	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565607091	chr21:47823205-47823206	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539273375	chr21:47823206-47823207	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2066932	chr21:47823229-47823230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs373927652	chr21:47823249-47823250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367953462	chr21:47823260-47823261	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372026275	chr21:47823265-47823266	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13052192	chr21:47823271-47823272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181355969	chr21:47823272-47823273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112046070	chr21:47823288-47823289	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13048550	chr21:47823298-47823299	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538325750	chr21:47823318-47823319	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556327461	chr21:47823321-47823322	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552092344	chr21:47823354-47823355	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9978980	chr21:47823374-47823375	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113048152	chr21:47823385-47823386	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374865050	chr21:47823412-47823413	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111352798	chr21:47823431-47823432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184762010	chr21:47823436-47823437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112575998	chr21:47823459-47823460	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9981889	chr21:47823468-47823469	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs535807150	chr21:47823492-47823493	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375396504	chr21:47823496-47823497	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74683598	chr21:47823507-47823508	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs572748017	chr21:47823517-47823518	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369231525	chr21:47823528-47823529	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546446223	chr21:47823529-47823530	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371406353	chr21:47823555-47823556	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564694273	chr21:47823558-47823559	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576104102	chr21:47823560-47823561	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543508104	chr21:47823561-47823562	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535411229	chr21:47823588-47823589	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561588501	chr21:47823592-47823593	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528901626	chr21:47823606-47823607	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546964023	chr21:47823609-47823610	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13053037	chr21:47823612-47823613	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559252933	chr21:47823613-47823614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111643679	chr21:47823619-47823620	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533043191	chr21:47823627-47823628	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551201136	chr21:47823635-47823636	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569828665	chr21:47823636-47823637	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536796277	chr21:47823638-47823639	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567037301	chr21:47823646-47823647	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550254697	chr21:47823654-47823655	Weak transcription Strong transcription 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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr21:47801200-47826200	Strong transcription	Fetal Stomach	stomach
4	chr21:47801400-47825000	Strong transcription	Primary T cells from cord blood	blood
5	chr21:47802200-47830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:47802200-47842600	Strong transcription	Dnd41	blood
7	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
8	chr21:47803600-47842600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:47804000-47825000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:47804000-47826200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:47804000-47826200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:47804200-47824600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr21:47804200-47825000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:47804200-47825600	Strong transcription	Left Ventricle	heart
15	chr21:47804200-47826400	Strong transcription	Fetal Thymus	thymus
16	chr21:47804600-47825400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:47804600-47825600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:47804600-47826200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:47804600-47827000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:47805800-47825400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:47806200-47825000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:47806400-47824000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr21:47813400-47823200	Strong transcription	Colonic Mucosa	Colon
28	chr21:47813800-47825200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:47814400-47861000	Weak transcription	Fetal Brain Male	brain
30	chr21:47814600-47834000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:47815000-47825000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:47815000-47825600	Strong transcription	Fetal Intestine Small	intestine
33	chr21:47815800-47823600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr21:47816000-47824400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:47816000-47825200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:47816000-47826400	Strong transcription	Osteobl	bone
37	chr21:47816200-47823200	Strong transcription	Adipose Nuclei	Adipose
38	chr21:47816200-47823600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr21:47816200-47823600	Strong transcription	Brain Germinal Matrix	brain
40	chr21:47816200-47823600	Strong transcription	Esophagus	oesophagus
41	chr21:47816200-47824000	Strong transcription	NHLF	lung
42	chr21:47816200-47824800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:47816200-47825000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:47816200-47825000	Strong transcription	Aorta	Aorta
45	chr21:47816200-47825000	Strong transcription	Lung	lung
46	chr21:47816200-47825000	Strong transcription	GM12878-XiMat	blood
47	chr21:47816200-47825200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:47816200-47825200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:47816200-47825200	Strong transcription	Fetal Brain Female	brain
50	chr21:47816200-47825200	Strong transcription	Placenta	Placenta

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