Variant report

Variant	rs72635032
Chromosome Location	chr21:28345197-28345198
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	chr21:28340634..28343175-chr21:28343403..28345485,2	K562	blood:
2	chr21:28338416..28342134-chr21:28343036..28345210,3	K562	blood:

Variant related genes	Relation type
ENSG00000154736	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11909355	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11910955	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11911883	0.97[EUR][1000 genomes]
rs1974414	0.99[EUR][1000 genomes]
rs2132824	0.86[ASN][1000 genomes]
rs2830594	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830602	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761334	0.84[ASN][1000 genomes]
rs3761335	0.84[ASN][1000 genomes]
rs66666114	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72635026	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72635027	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72635028	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72635029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72635034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72635035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72635036	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72635037	0.96[ASN][1000 genomes]
rs72635038	0.96[ASN][1000 genomes]
rs73356158	0.99[EUR][1000 genomes]
rs8129090	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9305295	0.82[ASN][1000 genomes]
rs9636787	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9636791	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28340400-28349600	Weak transcription	HSMM	muscle
2	chr21:28340600-28345400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:28340800-28345600	Weak transcription	Fetal Kidney	kidney
4	chr21:28341400-28345400	Weak transcription	Ovary	ovary
5	chr21:28341400-28345600	Weak transcription	Adipose Nuclei	Adipose
6	chr21:28342400-28346200	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:28342600-28345400	Weak transcription	Osteobl	bone
8	chr21:28342800-28345400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28343400-28345600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:28344000-28345800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr21:28344200-28345600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr21:28344400-28345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:28344600-28345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:28345000-28345600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr21:28345000-28346400	Enhancers	NHDF-Ad	bronchial

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