Variant report

Variant	rs12830818
Chromosome Location	chr12:75854140-75854141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10450780	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10879908	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10879909	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10879910	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10879912	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10879917	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180491	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11180502	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180503	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12366783	0.87[ASN][1000 genomes]
rs12369849	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1275478	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs1275480	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1275481	0.82[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs1604382	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1697750	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1697752	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs1697754	0.82[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs1875468	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036387	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2173919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2704766	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs2704767	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs3952732	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4019365	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4391857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4393363	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4479027	0.98[ASN][1000 genomes]
rs4565938	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4882599	0.88[CEU][hapmap];0.86[AMR][1000 genomes]
rs4882621	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4882622	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6582290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135340	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7294749	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295336	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7296471	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7300308	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7310735	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7966751	0.84[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs12830818	GLIPR1L2	cis	lung	GTEx
rs12830818	RP11-585P4.5	cis	Artery Tibial	GTEx
rs12830818	GLIPR1L2	cis	parietal	SCAN
rs12830818	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs12830818	GLIPR1L2	cis	Artery Tibial	GTEx
rs12830818	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs12830818	GLIPR1L2	cis	Artery Aorta	GTEx
rs12830818	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs12830818	GLIPR1L2	cis	Thyroid	GTEx
rs12830818	RP11-585P4.5	cis	Muscle Skeletal	GTEx
rs12830818	GLIPR1L2	cis	Nerve Tibial	GTEx
rs12830818	GLIPR1	cis	cerebellum	SCAN
rs12830818	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs12830818	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs12830818	GLIPR1	cis	normal skin	skin_eQTL
rs12830818	GLIPR1L2	cis	cerebellum	SCAN
rs12830818	GLIPR1L2	cis	Muscle Skeletal	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75847800-75854200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:75849600-75854800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:75849600-75854800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:75850200-75854400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:75851400-75867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:75852800-75854200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:75852800-75854800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:75853000-75854400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:75853200-75854200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:75853200-75854400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:75853200-75854400	Enhancers	Dnd41	blood
12	chr12:75853400-75854400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:75853400-75854600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:75853400-75855000	Enhancers	Hela-S3	cervix
15	chr12:75853800-75854200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:75853800-75854400	Enhancers	Primary T cells from cord blood	blood

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