Variant report

Variant	nsv187224
Chromosome Location	chr21:47718361-47718957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47706092..47709051-chr21:47718044..47720782,2	MCF-7	breast:
2	chr21:47704377..47706136-chr21:47717916..47719656,3	MCF-7	breast:
3	chr21:47708141..47711504-chr21:47716399..47719423,3	K562	blood:
4	chr21:47718509..47724261-chr21:47732959..47738534,9	K562	blood:
5	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
6	chr21:47717352..47719126-chr21:47738602..47740767,2	MCF-7	breast:
7	chr21:47718241..47721111-chr21:47723406..47725990,2	K562	blood:
8	chr21:47705635..47707803-chr21:47716511..47719183,2	K562	blood:
9	chr21:47717404..47720722-chr21:47740886..47746438,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160298	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000182362	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560884403	chr21:47718373-47718374	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs74851177	chr21:47718395-47718396	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
3	rs11909906	chr21:47718403-47718404	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs111935772	chr21:47718406-47718407	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
5	rs11089055	chr21:47718411-47718412	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs11909236	chr21:47718420-47718421	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs563770355	chr21:47718446-47718447	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs537209462	chr21:47718463-47718464	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs185611885	chr21:47718482-47718483	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567635217	chr21:47718489-47718490	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs11909164	chr21:47718492-47718493	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
12	rs573962801	chr21:47718499-47718500	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs546934782	chr21:47718500-47718501	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs542956949	chr21:47718505-47718506	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs538852869	chr21:47718506-47718507	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs368675033	chr21:47718544-47718545	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs546654402	chr21:47718550-47718551	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs556680416	chr21:47718556-47718557	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs191342673	chr21:47718559-47718560	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs535874909	chr21:47718565-47718566	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs182867974	chr21:47718590-47718591	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs188732023	chr21:47718594-47718595	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs192828916	chr21:47718603-47718604	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs545078997	chr21:47718612-47718613	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs386819434	chr21:47718633-47718634	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs61569347	chr21:47718634-47718635	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
27	rs369859654	chr21:47718639-47718640	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs544402707	chr21:47718691-47718692	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs563799607	chr21:47718705-47718706	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs183371505	chr21:47718730-47718731	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs549464090	chr21:47718763-47718764	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs61446584	chr21:47718764-47718765	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs561172050	chr21:47718786-47718787	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs112591243	chr21:47718796-47718797	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs187872858	chr21:47718832-47718833	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs191577338	chr21:47718844-47718845	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs547310272	chr21:47718863-47718864	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs567061269	chr21:47718873-47718874	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs560207588	chr21:47718882-47718883	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs535960733	chr21:47718916-47718917	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs183719700	chr21:47718929-47718930	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs60434333	chr21:47718932-47718933	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
43	rs914249	chr21:47718933-47718934	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs200987708	chr21:47718950-47718951	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs533551420	chr21:47718957-47718958	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	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:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47710000-47727600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr21:47710200-47720400	Weak transcription	Hela-S3	cervix
3	chr21:47712000-47719200	Weak transcription	A549	lung
4	chr21:47712400-47719000	Weak transcription	Dnd41	blood
5	chr21:47715400-47719400	Weak transcription	GM12878-XiMat	blood
6	chr21:47715800-47718800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:47716200-47721400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:47716200-47727200	Weak transcription	HSMMtube	muscle
9	chr21:47716400-47719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:47716400-47727000	Weak transcription	HSMM	muscle
11	chr21:47716600-47719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:47716600-47724400	Weak transcription	K562	blood
13	chr21:47716800-47738600	Weak transcription	HepG2	liver
14	chr21:47717200-47718400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr21:47717200-47718400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
16	chr21:47717200-47718400	Active TSS	Primary T cells from cord blood	blood
17	chr21:47717200-47718400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:47717200-47718400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:47717200-47718400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr21:47717200-47718400	Bivalent Enhancer	Fetal Brain Male	brain
21	chr21:47717200-47718400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr21:47717200-47718400	Active TSS	Right Atrium	heart
23	chr21:47717400-47718400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:47717400-47718400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:47717400-47718400	Flanking Active TSS	HUVEC	blood vessel
26	chr21:47717400-47723200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:47717600-47718400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr21:47717600-47718400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:47717600-47718400	Flanking Active TSS	Fetal Lung	lung
30	chr21:47717600-47718400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
31	chr21:47717600-47718400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr21:47717800-47719000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:47717800-47719200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:47717800-47739600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:47718000-47718400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr21:47718000-47718400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:47718000-47718400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr21:47718000-47718400	Enhancers	Spleen	Spleen
39	chr21:47718000-47718400	Enhancers	HMEC	breast
40	chr21:47718000-47718400	Enhancers	NHLF	lung
41	chr21:47718000-47719000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:47718000-47719200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr21:47718000-47720800	Weak transcription	Small Intestine	intestine
44	chr21:47718000-47729200	Weak transcription	Aorta	Aorta
45	chr21:47718000-47736000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr21:47718200-47718400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr21:47718200-47718400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:47718200-47718400	Enhancers	Primary B cells from peripheral blood	blood
49	chr21:47718200-47718400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr21:47718200-47718400	Enhancers	Primary hematopoietic stem cells	blood

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