Variant report

Variant	rs537410
Chromosome Location	chr1:93478536-93478537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93477075..93479957-chr1:93501163..93503966,2	K562	blood:
2	chr1:93297396..93299866-chr1:93478286..93480481,2	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10747455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1764470	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2492899	0.89[AFR][1000 genomes]
rs2492900	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2815405	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4345812	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4361994	1.00[AMR][1000 genomes]
rs4366327	1.00[AMR][1000 genomes]
rs4367789	1.00[AMR][1000 genomes]
rs4436402	1.00[AMR][1000 genomes]
rs4466666	1.00[AMR][1000 genomes]
rs4491068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs473946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4847228	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508180	1.00[AMR][1000 genomes]
rs508787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs521360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541676	1.00[AMR][1000 genomes]
rs545357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559595	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574550	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587589	1.00[AMR][1000 genomes]
rs593214	1.00[AMR][1000 genomes]
rs595783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs596817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614073	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs617683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs634127	1.00[AMR][1000 genomes]
rs640481	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6604036	1.00[AMR][1000 genomes]
rs662881	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661632	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690825	1.00[AMR][1000 genomes]
rs674982	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs678537	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs770880	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs811286	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93474000-93478800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:93474200-93478800	Weak transcription	HSMMtube	muscle
3	chr1:93474200-93479000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:93474200-93490600	Weak transcription	K562	blood
5	chr1:93477400-93478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:93478000-93479000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:93478000-93479600	Enhancers	GM12878-XiMat	blood
8	chr1:93478200-93481400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:93478200-93481600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:93478200-93482600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:93478400-93479600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:93478400-93479600	Weak transcription	Fetal Thymus	thymus

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