Variant report

Variant	rs1568030
Chromosome Location	chr12:124275344-124275345
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	chr12:124267933..124270211-chr12:124272777..124275350,2	K562	blood:
2	chr12:124273932..124275896-chr12:124278315..124281103,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1022320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050448	1.00[CHB][hapmap]
rs10744163	1.00[CHB][hapmap]
rs10846555	0.81[EUR][1000 genomes]
rs10846556	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846569	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11057353	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs11057355	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs11057358	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114628	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs11832329	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835233	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302651	1.00[CEU][hapmap]
rs12809853	1.00[CHB][hapmap]
rs15587	1.00[CHB][hapmap]
rs1568027	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568029	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2340692	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs2674504	1.00[ASN][1000 genomes]
rs2674506	1.00[ASN][1000 genomes]
rs3204541	1.00[CHB][hapmap]
rs34506612	1.00[ASN][1000 genomes]
rs34535130	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34705855	1.00[ASN][1000 genomes]
rs4930728	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4930732	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55920625	1.00[ASN][1000 genomes]
rs56399357	1.00[ASN][1000 genomes]
rs61953572	1.00[ASN][1000 genomes]
rs67861770	1.00[ASN][1000 genomes]
rs7136121	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137299	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137310	1.00[ASN][1000 genomes]
rs71458816	1.00[ASN][1000 genomes]
rs7303002	1.00[ASN][1000 genomes]
rs7962448	0.84[EUR][1000 genomes]
rs7973103	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1568030	TCTN2	cis	parietal	SCAN
rs1568030	TCTN2	cis	cerebellum	SCAN

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
chromosomal regions: chr1:12345-34567

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