Variant report

Variant	rs1713912
Chromosome Location	chr7:2895784-2895785
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2893756..2895887-chr7:2901589..2904569,2	K562	blood:
2	chr7:2890202..2892822-chr7:2894073..2897035,2	MCF-7	breast:
3	chr7:2891216..2892935-chr7:2895055..2897737,2	K562	blood:
4	chr7:2895086..2897225-chr7:2913092..2915364,2	MCF-7	breast:
5	chr7:2894850..2898157-chr7:2912459..2915037,3	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1182143	0.87[CEU][hapmap]
rs1182151	0.80[ASN][1000 genomes]
rs1182155	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs1182156	0.91[ASN][1000 genomes]
rs1182174	0.90[CEU][hapmap]
rs1182177	0.81[CEU][hapmap]
rs1182179	0.82[CEU][hapmap]
rs1182181	0.82[CEU][hapmap]
rs1182183	0.86[CEU][hapmap]
rs1182185	0.81[CEU][hapmap]
rs1182188	0.82[CEU][hapmap]
rs1182189	0.81[CEU][hapmap]
rs1182198	0.86[CEU][hapmap]
rs11973498	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12700373	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13230946	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13230995	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1614791	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1623138	0.91[ASN][1000 genomes]
rs1636247	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1636249	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1636250	0.95[CEU][hapmap];0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1636253	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1636254	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1636255	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1636256	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1639036	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1639040	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1639064	0.93[ASN][1000 genomes]
rs1639065	0.83[ASN][1000 genomes]
rs1639066	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1713913	0.97[ASN][1000 genomes]
rs1713919	0.82[CEU][hapmap]
rs2107964	0.91[CEU][hapmap]
rs2260230	0.82[CEU][hapmap]
rs2527677	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2527680	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2527681	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2533867	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2533868	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2533870	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2533871	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2533877	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2533878	0.82[CEU][hapmap]
rs2533889	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2533891	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2644281	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2644286	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2644293	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2644300	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2644309	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2644312	0.82[CEU][hapmap]
rs71522301	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71522302	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71524003	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7783400	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs798485	0.82[CEU][hapmap]
rs798486	0.82[CEU][hapmap]
rs798488	0.82[CEU][hapmap]
rs798490	0.82[CEU][hapmap]
rs960273	0.82[CEU][hapmap]

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	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1713912	GNA12	cis	Nerve Tibial	GTEx
rs1713912		cis	Lymphoblastoid	GTEx
rs1713912	GNA12	Cis_1M	lymphoblastoid	RTeQTL
rs1713912	GNA12	cis	multi-tissue	Pritchard
rs1713912	GNA12	cis	Artery Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2884600-2896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:2884600-2902800	Weak transcription	Right Ventricle	heart
3	chr7:2884800-2895800	Weak transcription	Fetal Heart	heart
4	chr7:2885000-2902000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:2890400-2895800	Weak transcription	Pancreas	Pancrea
6	chr7:2890400-2896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:2891600-2902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:2891600-2902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:2891600-2902600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:2891600-2902800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:2892800-2902000	Weak transcription	NHLF	lung
12	chr7:2893200-2895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:2893200-2902000	Weak transcription	Ovary	ovary
14	chr7:2893400-2900200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:2893400-2902600	Weak transcription	GM12878-XiMat	blood

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