Variant report

Variant	esv3424338
Chromosome Location	chr21:47822049-47824897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47787244..47789996-chr21:47820361..47822942,3	K562	blood:
2	chr21:47824425..47826063-chr21:47831096..47833613,2	K562	blood:
3	chr21:47822069..47824490-chr21:47825069..47828475,3	K562	blood:
4	chr21:47816809..47819789-chr21:47819866..47822473,2	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	rs11391105	chr21:47822052-47822053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397695930	chr21:47822055-47822056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11417856	chr21:47822063-47822064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34462854	chr21:47822064-47822065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397691051	chr21:47822065-47822066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376849286	chr21:47822217-47822218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369873165	chr21:47822227-47822228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370209469	chr21:47822303-47822304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140290722	chr21:47822309-47822310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374235436	chr21:47822315-47822316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145305649	chr21:47822329-47822330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145665841	chr21:47822340-47822341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570456724	chr21:47822355-47822356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113342730	chr21:47822356-47822357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377039885	chr21:47822361-47822362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141860893	chr21:47822397-47822398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371474470	chr21:47822408-47822409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112063519	chr21:47822418-47822419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535319942	chr21:47822422-47822423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185788561	chr21:47822423-47822424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368282016	chr21:47822426-47822427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200502265	chr21:47822427-47822428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540326743	chr21:47822434-47822435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377660017	chr21:47822453-47822454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143199501	chr21:47822485-47822486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146285929	chr21:47822491-47822492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544562433	chr21:47822505-47822506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563062796	chr21:47822508-47822509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113004695	chr21:47822509-47822510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111789597	chr21:47822541-47822542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8129460	chr21:47822544-47822545	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs542089806	chr21:47822555-47822556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560656085	chr21:47822558-47822559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148268295	chr21:47822606-47822607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11909415	chr21:47822620-47822621	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570520453	chr21:47822670-47822671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190471795	chr21:47822681-47822682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117696950	chr21:47822730-47822731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs141309024	chr21:47822751-47822752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77952827	chr21:47822781-47822782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs539599672	chr21:47822793-47822794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543357826	chr21:47822801-47822802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182248479	chr21:47822822-47822823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539210093	chr21:47822823-47822824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558644978	chr21:47822844-47822845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73379336	chr21:47822864-47822865	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371075150	chr21:47822892-47822893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566135022	chr21:47822893-47822894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138244234	chr21:47822928-47822929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540041981	chr21:47822998-47822999	Weak transcription Strong 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:193 , 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	chr21:47804800-47823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:47805800-47825400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr21:47806200-47825000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:47806400-47824000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:47806600-47822200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr21:47813400-47823200	Strong transcription	Colonic Mucosa	Colon
30	chr21:47813800-47825200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:47814400-47861000	Weak transcription	Fetal Brain Male	brain
32	chr21:47814600-47834000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:47815000-47825000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr21:47815000-47825600	Strong transcription	Fetal Intestine Small	intestine
35	chr21:47815200-47822400	Weak transcription	A549	lung
36	chr21:47815800-47823600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr21:47816000-47824400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr21:47816000-47825200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:47816000-47826400	Strong transcription	Osteobl	bone
40	chr21:47816200-47822800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:47816200-47822800	Strong transcription	Fetal Lung	lung
42	chr21:47816200-47823200	Strong transcription	Adipose Nuclei	Adipose
43	chr21:47816200-47823600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr21:47816200-47823600	Strong transcription	Brain Germinal Matrix	brain
45	chr21:47816200-47823600	Strong transcription	Esophagus	oesophagus
46	chr21:47816200-47824000	Strong transcription	NHLF	lung
47	chr21:47816200-47824800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:47816200-47825000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47816200-47825000	Strong transcription	Aorta	Aorta
50	chr21:47816200-47825000	Strong transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links