Variant report

Variant	rs7543029
Chromosome Location	chr1:193305723-193305724
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	chr1:193301837..193303548-chr1:193305413..193307169,2	K562	blood:
2	chr1:193301837..193303845-chr1:193305549..193307169,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10732293	0.92[CEU][hapmap]
rs10801178	0.83[CEU][hapmap]
rs10801184	0.92[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs10801187	0.92[CEU][hapmap]
rs10801189	0.92[CEU][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs10801190	0.81[EUR][1000 genomes]
rs10801191	0.84[EUR][1000 genomes]
rs10801192	0.85[EUR][1000 genomes]
rs10921323	0.92[CEU][hapmap]
rs10921326	0.92[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs10921330	0.83[CEU][hapmap]
rs10921334	0.84[EUR][1000 genomes]
rs10921343	0.91[ASN][1000 genomes]
rs10921344	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11577299	0.92[CEU][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs12034095	0.87[ASN][1000 genomes]
rs12037055	0.95[ASN][1000 genomes]
rs12040365	0.84[ASN][1000 genomes]
rs12041893	0.86[ASN][1000 genomes]
rs12047390	0.82[CHB][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap]
rs12078145	0.85[EUR][1000 genomes]
rs12090626	0.83[CEU][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs12124282	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12125235	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145057	0.92[CEU][hapmap]
rs12145954	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1339961	0.99[ASN][1000 genomes]
rs1361404	0.96[CEU][hapmap];0.82[CHB][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1361405	0.82[CHB][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap]
rs1408830	0.92[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs1416977	0.88[EUR][1000 genomes]
rs1536098	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs1536099	0.92[CEU][hapmap]
rs1539724	0.82[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs1578242	0.84[EUR][1000 genomes]
rs1578243	0.84[EUR][1000 genomes]
rs16835282	0.99[ASN][1000 genomes]
rs16835304	0.98[ASN][1000 genomes]
rs1749429	0.87[ASN][1000 genomes]
rs1749430	0.87[ASN][1000 genomes]
rs1749431	0.99[ASN][1000 genomes]
rs1749432	0.99[ASN][1000 genomes]
rs1769999	0.99[ASN][1000 genomes]
rs1770000	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181858	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2186016	0.92[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs2275507	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2486843	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3738244	0.83[CEU][hapmap]
rs4403612	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4657744	0.92[CEU][hapmap]
rs4657854	0.99[ASN][1000 genomes]
rs4657855	0.99[ASN][1000 genomes]
rs497362	0.98[ASN][1000 genomes]
rs515964	0.99[ASN][1000 genomes]
rs531327	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59264807	0.99[ASN][1000 genomes]
rs61082463	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61648161	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6428152	0.80[GIH][hapmap]
rs6428156	0.92[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs6428157	0.92[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap]
rs6428163	0.87[ASN][1000 genomes]
rs6428166	0.99[ASN][1000 genomes]
rs6662104	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6675827	0.85[EUR][1000 genomes]
rs6686065	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6693734	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs6697079	0.88[CEU][hapmap];0.87[GIH][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs6702762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7367986	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7514072	0.92[CEU][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs7515024	0.87[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap]
rs7518792	0.80[GIH][hapmap]
rs7528595	0.99[ASN][1000 genomes]
rs7534504	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7544027	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7550521	0.99[ASN][1000 genomes]
rs7555466	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs843844	0.80[GIH][hapmap]
rs9887974	0.88[EUR][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	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7543029	GLRX2	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193303800-193306200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:193303800-193306200	Enhancers	NHDF-Ad	bronchial
3	chr1:193303800-193308000	Enhancers	HSMM	muscle
4	chr1:193304400-193305800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:193304400-193305800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:193304400-193306000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:193304400-193306000	Enhancers	NHLF	lung
8	chr1:193304600-193305800	Enhancers	Osteobl	bone
9	chr1:193304800-193305800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:193304800-193305800	Enhancers	NH-A	brain
11	chr1:193304800-193307400	Enhancers	HSMMtube	muscle
12	chr1:193305200-193306800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:193305400-193307000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:193305400-193307200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:193305600-193306800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:193305600-193307200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:193305600-193307200	Weak transcription	Fetal Lung	lung

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