Variant report

Variant	rs482060
Chromosome Location	chr1:72273383-72273384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11209818	0.81[JPT][hapmap]
rs11209841	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11209842	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs11209844	0.94[CHB][hapmap];0.82[JPT][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11578097	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs11584866	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs1158573	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs11588321	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12024388	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs12030035	0.80[CHB][hapmap]
rs12037107	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12040327	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs12048869	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs12078969	0.88[CHB][hapmap]
rs1491198	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs17091704	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs17091710	0.90[JPT][hapmap]
rs1870523	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs1870525	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs2125775	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs2125776	0.87[CHB][hapmap]
rs2125777	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs4649943	0.88[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4649945	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs4649947	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs4649949	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4649950	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4650123	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs497074	1.00[YRI][hapmap]
rs531071	1.00[YRI][hapmap]
rs6424448	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs6671557	0.81[CHB][hapmap]
rs6697370	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs6701156	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs7528030	0.88[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1008210	chr1:72099161-72374197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv830181	chr1:72155983-72296578	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv2762150	chr1:72271227-72395953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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