Variant report

Variant	rs7512814
Chromosome Location	chr1:168309110-168309111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10465552	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12239418	0.87[AFR][1000 genomes]
rs16860403	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2076061	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2235299	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268563	0.84[ASN][1000 genomes]
rs2268565	0.84[ASN][1000 genomes]
rs2268566	0.84[ASN][1000 genomes]
rs2284758	0.84[EUR][1000 genomes]
rs2284762	0.90[ASN][1000 genomes]
rs59227453	0.88[ASN][1000 genomes]
rs6427125	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6672853	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7512612	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512951	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535315	0.80[AFR][1000 genomes]
rs7551330	0.92[ASN][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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168283800-168312800	Weak transcription	Spleen	Spleen
2	chr1:168291000-168311800	Weak transcription	Ovary	ovary
3	chr1:168294400-168310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:168301600-168309800	Weak transcription	K562	blood
5	chr1:168302200-168311200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:168305200-168310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:168308400-168311600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:168308800-168311600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:168309000-168309200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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