Variant report

Variant	rs10879945
Chromosome Location	chr12:76021824-76021825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76020325..76023301-chr12:76118678..76120430,2	MCF-7	breast:
2	chr12:76014354..76029119-chr12:76417641..76428409,36	MCF-7	breast:
3	chr12:76019985..76022320-chr12:76024831..76027786,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10748283	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10748284	0.89[CHB][hapmap];0.96[ASN][1000 genomes]
rs10785195	0.90[EUR][1000 genomes]
rs10785199	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10785200	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10879930	0.90[EUR][1000 genomes]
rs10879936	0.81[CEU][hapmap]
rs10879937	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879938	0.85[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10879943	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10879944	0.96[ASN][1000 genomes]
rs10879946	0.96[ASN][1000 genomes]
rs10879947	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10879948	0.92[ASN][1000 genomes]
rs11180600	0.83[ASN][1000 genomes]
rs11180601	0.87[ASN][1000 genomes]
rs11180605	0.96[ASN][1000 genomes]
rs11495681	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12310185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12318049	0.82[ASN][1000 genomes]
rs1466464	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1480005	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1697759	0.90[EUR][1000 genomes]
rs1871548	0.93[ASN][1000 genomes]
rs2366988	0.81[CEU][hapmap]
rs2366989	0.81[CEU][hapmap]
rs34767748	0.93[ASN][1000 genomes]
rs34952545	0.96[ASN][1000 genomes]
rs4882601	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4882602	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4882637	0.97[ASN][1000 genomes]
rs4882639	0.90[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4882640	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6582293	0.81[EUR][1000 genomes]
rs7137366	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137610	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs7305673	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs7314220	0.81[CEU][hapmap]
rs733880	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs733881	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs7956673	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs7956799	0.90[EUR][1000 genomes]
rs7958075	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7958490	0.91[ASN][1000 genomes]
rs7958760	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7962144	0.85[CEU][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs7962276	0.85[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.80[EUR][1000 genomes]
rs7972231	0.89[ASN][1000 genomes]
rs7973399	0.91[ASN][1000 genomes]
rs7980645	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs899658	0.97[ASN][1000 genomes]
rs899659	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs10879945	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs10879945	GLIPR1	cis	cerebellum	SCAN
rs10879945	GLIPR1L2	cis	cerebellum	SCAN
rs10879945	KRR1	cis	parietal	SCAN
rs10879945	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs10879945	GLIPR1L2	cis	lung	GTEx
rs10879945	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs10879945	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs10879945	GLIPR1	Cis_1M	lymphoblastoid	RTeQTL
rs10879945	GLIPR1	cis	parietal	SCAN
rs10879945	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs10879945	GLIPR1L2	cis	Nerve Tibial	GTEx
rs10879945	GLIPR1L2	cis	Thyroid	GTEx
rs10879945	GLIPR1L1	cis	cerebellum	SCAN
rs10879945	KRR1	cis	cerebellum	SCAN
rs10879945	GLIPR1L2	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76017600-76025200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:76017800-76022600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:76017800-76028800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:76018000-76025400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:76018000-76025400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:76018000-76028600	Weak transcription	NHLF	lung
7	chr12:76018000-76028800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:76018200-76029600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:76018400-76022600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:76018400-76025000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:76018400-76025200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:76018400-76027600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:76018400-76029400	Weak transcription	NHEK	skin
14	chr12:76018600-76024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:76021400-76022000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:76021600-76022800	Enhancers	Fetal Lung	lung
17	chr12:76021600-76022800	Weak transcription	Pancreas	Pancrea
18	chr12:76021800-76024000	Enhancers	HepG2	liver

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