Variant report

Variant	rs12748650
Chromosome Location	chr1:217177341-217177342
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11572435	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11585218	0.88[ASN][1000 genomes]
rs12724974	0.88[ASN][1000 genomes]
rs12731437	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12738035	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12741457	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12747869	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12759584	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17044977	0.88[ASN][1000 genomes]
rs17635718	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17686743	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17686866	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1890555	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34056739	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34096624	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4846800	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4846801	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs71643436	0.81[AMR][1000 genomes]
rs71643437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1008670	chr1:217155114-217206765	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1012243	chr1:217157000-217206765	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004880	chr1:217157748-217206765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1011212	chr1:217162443-217206765	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:217173600-217187600	Weak transcription	Fetal Heart	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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