Variant report

Variant	rs7976685
Chromosome Location	chr12:12444014-12444015
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10845509	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1420732	0.82[ASN][1000 genomes]
rs1420733	0.82[ASN][1000 genomes]
rs1894984	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4763275	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4763797	0.81[ASW][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.88[YRI][hapmap];0.88[ASN][1000 genomes]
rs4763798	0.84[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.87[ASN][1000 genomes]
rs7970052	0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7980467	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980573	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7976685	KLRF1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12436600-12446200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:12437000-12447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:12443400-12446200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:12443400-12447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:12443400-12447400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:12443600-12447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:12443600-12447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:12443800-12446200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:12443800-12447000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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