Variant report

Variant	rs12483136
Chromosome Location	chr21:27855332-27855333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:27841789..27843802-chr21:27853372..27855381,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1369171	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1478096	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs150753	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564167	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs170178	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs170179	0.90[ASN][1000 genomes]
rs178422	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs188816	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs219617	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs219623	0.89[ASN][1000 genomes]
rs219624	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs219626	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219627	0.88[ASN][1000 genomes]
rs219628	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219629	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219630	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219631	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs219633	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs219634	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219635	0.90[ASN][1000 genomes]
rs36003638	0.86[ASN][1000 genomes]
rs456751	0.83[ASN][1000 genomes]
rs4817119	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6516735	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs714428	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8128305	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv913660	chr21:27815652-27869676	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv587336	chr21:27849346-27865978	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv1844181	chr21:27854701-27879342	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27839400-27856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:27842400-27862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:27843800-27860200	Weak transcription	Left Ventricle	heart
5	chr21:27847000-27862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:27849400-27863000	Weak transcription	Fetal Kidney	kidney
7	chr21:27851400-27863000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:27851400-27864000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:27852200-27863000	Weak transcription	Fetal Lung	lung
10	chr21:27852600-27862800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:27852600-27863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:27852600-27867600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:27852800-27856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:27852800-27862000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:27852800-27862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:27852800-27871400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:27853000-27863200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links