Variant report

Variant	rs2830275
Chromosome Location	chr21:27918818-27918819
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13433431	0.82[YRI][hapmap]
rs13433470	0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1543775	0.83[AMR][1000 genomes]
rs1893573	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2135305	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2830280	0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2830282	0.83[AMR][1000 genomes]
rs2830295	0.83[AMR][1000 genomes]
rs2830296	0.83[AMR][1000 genomes]
rs2830298	0.83[AMR][1000 genomes]
rs2830299	0.83[AMR][1000 genomes]
rs2830300	0.83[AMR][1000 genomes]
rs2830301	0.83[AMR][1000 genomes]
rs28401356	0.83[AMR][1000 genomes]
rs28525622	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28678819	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57821067	0.83[AMR][1000 genomes]
rs7277524	0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs7283190	0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73351185	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73351190	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73353008	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8128689	0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs8129932	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8129933	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8130654	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8133538	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9974221	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9975467	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9975732	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9978127	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9979986	0.83[AMR][1000 genomes]
rs9980194	0.83[AMR][1000 genomes]
rs9980419	0.83[AMR][1000 genomes]
rs9984233	0.80[YRI][hapmap]
rs9989934	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27886000-27923000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:27886200-27944200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:27892000-27930400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:27901800-27931400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:27903000-27921000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:27903400-27932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:27906000-27931200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:27906200-27933000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr21:27908400-27932600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:27908800-27930200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:27912600-27919000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:27912600-27928800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:27912600-27942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr21:27913000-27920600	Weak transcription	Right Atrium	heart
15	chr21:27913000-27930800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr21:27914400-27921200	Weak transcription	Fetal Lung	lung
17	chr21:27914600-27944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:27915000-27919000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr21:27916000-27920600	Weak transcription	Left Ventricle	heart
20	chr21:27916400-27932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:27917000-27922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:27917000-27922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:27918200-27919400	Enhancers	Fetal Stomach	stomach
24	chr21:27918400-27919000	Enhancers	HUVEC	blood vessel
25	chr21:27918400-27920000	Enhancers	Fetal Kidney	kidney
26	chr21:27918600-27919600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr21:27918600-27920000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr21:27918600-27920000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr21:27918600-27921200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:27918800-27919000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr21:27918800-27919600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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