Variant report

Variant	rs7297994
Chromosome Location	chr12:75737297-75737298
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	chr12:75728850..75731085-chr12:75734709..75737480,2	K562	blood:
2	chr12:75728541..75730214-chr12:75735015..75737380,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10506668	0.82[JPT][hapmap];0.87[TSI][hapmap]
rs1051446	0.82[TSI][hapmap]
rs10879900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10879902	0.88[CHB][hapmap]
rs10879903	0.87[CHB][hapmap]
rs10879905	0.80[EUR][1000 genomes]
rs10879906	0.80[EUR][1000 genomes]
rs10879907	0.80[EUR][1000 genomes]
rs10879922	0.84[TSI][hapmap]
rs11180441	0.83[JPT][hapmap]
rs11180455	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs11180456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180458	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180460	0.88[CEU][hapmap];0.87[CHB][hapmap];0.81[GIH][hapmap];0.84[AMR][1000 genomes]
rs11180465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs11180472	0.83[YRI][hapmap]
rs11180473	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180474	0.87[CHB][hapmap]
rs11180475	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180483	0.82[JPT][hapmap];0.87[TSI][hapmap]
rs11180488	0.80[EUR][1000 genomes]
rs11180489	0.81[EUR][1000 genomes]
rs11180492	0.80[EUR][1000 genomes]
rs11180540	0.84[TSI][hapmap]
rs11180548	0.84[TSI][hapmap]
rs11520223	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11610111	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11610112	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11831200	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs11837697	0.82[AMR][1000 genomes]
rs12366348	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12367329	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12368429	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12369556	0.82[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs12369854	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12371293	0.81[EUR][1000 genomes]
rs12372516	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581416	0.88[CEU][hapmap];0.87[CHB][hapmap];0.92[GIH][hapmap];0.88[AMR][1000 genomes]
rs1909979	0.84[TSI][hapmap]
rs3087687	0.88[CEU][hapmap];0.87[CHB][hapmap];0.92[GIH][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3741496	0.84[TSI][hapmap]
rs3923914	0.81[EUR][1000 genomes]
rs4394867	0.82[JPT][hapmap];0.87[TSI][hapmap]
rs4565940	0.82[JPT][hapmap];0.87[TSI][hapmap]
rs4623941	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4882616	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4882618	0.82[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs4882619	0.80[EUR][1000 genomes]
rs4882620	0.80[EUR][1000 genomes]
rs4882687	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4882689	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60971359	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67904412	0.80[EUR][1000 genomes]
rs7135440	0.80[EUR][1000 genomes]
rs7136911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298343	0.84[CEU][hapmap];0.92[GIH][hapmap]
rs73191008	0.82[EUR][1000 genomes]
rs73364090	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73364096	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73365996	0.80[EUR][1000 genomes]
rs7954879	1.00[CEU][hapmap];0.84[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7967619	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969930	0.82[TSI][hapmap]
rs7970188	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7974011	0.84[TSI][hapmap]
rs7975661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7978312	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]

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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv520424	chr12:75646788-75740883	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv526556	chr12:75653281-75740883	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1054059	chr12:75654631-75776721	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs7297994	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs7297994	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs7297994	GLIPR1L2	cis	Artery Aorta	GTEx
rs7297994	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs7297994	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs7297994	GLIPR1L2	cis	Artery Tibial	GTEx
rs7297994	GLIPR1L2	cis	lung	GTEx
rs7297994	RP11-585P4.5	cis	Muscle Skeletal	GTEx
rs7297994	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs7297994	RP11-585P4.5	cis	Nerve Tibial	GTEx
rs7297994	RP11-585P4.5	cis	Artery Tibial	GTEx
rs7297994	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs7297994	RP11-585P4.5	cis	Esophagus Mucosa	GTEx
rs7297994	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs7297994	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs7297994	GLIPR1L2	cis	Thyroid	GTEx
rs7297994	RP11-585P4.5	cis	Thyroid	GTEx
rs7297994	RP11-585P4.5	cis	Esophagus Muscularis	GTEx
rs7297994	GLIPR1L2	cis	Stomach	GTEx
rs7297994	GLIPR1L2	cis	Nerve Tibial	GTEx

Chromatin state (count:0 , 50 per page) page:

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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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