Variant report

Variant	rs12741484
Chromosome Location	chr1:192696196-192696197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10429900	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10489519	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737613	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10737615	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10737616	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10754025	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10754026	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10754027	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10754028	0.84[EUR][1000 genomes]
rs10754029	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10801143	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10801144	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10801145	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10801146	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10801147	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10921248	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10921252	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10921253	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10921254	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10921255	0.84[AMR][1000 genomes]
rs10921256	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10921257	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12022694	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12027961	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12030009	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12030545	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12058129	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12118386	0.82[CHB][hapmap]
rs12143838	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12145127	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12408837	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12409129	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12409270	0.85[EUR][1000 genomes]
rs12410029	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12568780	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12724316	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12728622	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1418720	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1418721	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1592232	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1592233	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16834597	0.80[YRI][hapmap]
rs1933696	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1933701	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1933702	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1935825	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2066410	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2146603	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2146604	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2146606	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2296021	0.82[CHB][hapmap]
rs2369895	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2369896	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3767489	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6428133	0.85[EUR][1000 genomes]
rs6428134	0.84[EUR][1000 genomes]
rs6657274	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs720829	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7522463	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525732	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7534794	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7535996	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7537443	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7538277	0.86[EUR][1000 genomes]
rs7545839	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7548448	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12741484	RGS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192694200-192697400	Weak transcription	Fetal Lung	lung
2	chr1:192694400-192698800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:192694600-192699000	Weak transcription	Aorta	Aorta
4	chr1:192695200-192697000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:192695800-192696200	Enhancers	Fetal Intestine Large	intestine
6	chr1:192696000-192696200	Enhancers	NHDF-Ad	bronchial
7	chr1:192696000-192696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192696000-192696400	Flanking Active TSS	NHEK	skin
9	chr1:192696000-192696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:192696000-192696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:192696000-192696800	Enhancers	HMEC	breast

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