Variant report

Variant	rs6701258
Chromosome Location	chr1:192945348-192945349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192944889..192949055-chr1:192952758..192955789,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10754036	0.85[AMR][1000 genomes]
rs10801165	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921296	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921298	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921299	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921300	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11507871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11507872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12117621	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12117656	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12118267	0.85[AMR][1000 genomes]
rs12125252	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12125347	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12132131	0.85[AMR][1000 genomes]
rs12138298	0.83[AMR][1000 genomes]
rs12143913	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12531	1.00[CHD][hapmap]
rs1339591	0.91[AMR][1000 genomes]
rs1339593	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1615218	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1769054	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1770915	1.00[CHD][hapmap]
rs1775687	1.00[CHD][hapmap]
rs2066216	0.89[EUR][1000 genomes]
rs2486496	0.91[AMR][1000 genomes]
rs28461227	0.89[EUR][1000 genomes]
rs6428143	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700102	0.84[EUR][1000 genomes]
rs710140	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs710141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72738564	0.83[AMR][1000 genomes]
rs72738565	0.83[AMR][1000 genomes]
rs72738572	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72738574	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72738576	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7415619	0.83[AMR][1000 genomes]
rs7512163	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512241	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513985	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7523033	1.00[CHD][hapmap]
rs7547423	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842792	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842793	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842794	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842798	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842802	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842803	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842812	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842815	0.91[AMR][1000 genomes]
rs844528	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9427824	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9427825	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs946557	0.91[AMR][1000 genomes];0.90[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2762039	chr1:192944821-192949840	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6701258	GLRX2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192937800-192946600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
4	chr1:192939200-192946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:192940600-192947600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:192944000-192948600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:192944000-192949800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192944000-192951400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:192944000-192961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:192944000-192962800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:192944000-192963000	Weak transcription	Pancreas	Pancrea
12	chr1:192944200-192963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:192944400-192949600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:192944400-192962800	Weak transcription	Osteobl	bone
15	chr1:192944800-192946200	Enhancers	K562	blood

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