Variant report

Variant	rs17864571
Chromosome Location	chr2:51888679-51888680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10168197	0.82[EUR][1000 genomes]
rs1119247	0.89[EUR][1000 genomes]
rs11563020	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11694738	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1400103	0.88[ASN][1000 genomes]
rs1516178	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1516181	0.82[ASN][1000 genomes]
rs1516198	0.84[EUR][1000 genomes]
rs2354385	0.89[EUR][1000 genomes]
rs2354980	0.80[ASN][1000 genomes]
rs2883570	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs966733	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs966734	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001552	chr2:51225970-52139741	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv535708	chr2:51225970-52139741	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv874069	chr2:51723107-52006583	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1011738	chr2:51731251-51976068	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv527776	chr2:51876663-51898276	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv581887	chr2:51883456-51927714	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv874072	chr2:51883456-51928042	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17864571	KLRAQ1	cis	parietal	SCAN
rs17864571	EML6	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51887800-51888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:51887800-51889000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:51888400-51889000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:51888400-51891800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:51888600-51889000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:51888600-51889000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:51888600-51889200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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