Variant report

Variant	rs1591149
Chromosome Location	chr1:170386716-170386717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10800520	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10800521	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10919390	0.81[EUR][1000 genomes]
rs10919391	0.82[EUR][1000 genomes]
rs10919394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10919403	0.82[AMR][1000 genomes]
rs10919404	0.83[AFR][1000 genomes]
rs10919405	0.82[AMR][1000 genomes]
rs10919410	0.87[AMR][1000 genomes]
rs12032644	0.89[AFR][1000 genomes]
rs12044404	0.93[AFR][1000 genomes]
rs12066718	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12120718	0.83[AMR][1000 genomes]
rs12122951	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12123065	0.85[AMR][1000 genomes]
rs12124354	0.82[AMR][1000 genomes]
rs12128140	0.82[AMR][1000 genomes]
rs12128573	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12138138	0.81[AMR][1000 genomes]
rs12141076	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12142689	0.86[EUR][1000 genomes]
rs12145296	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12402306	0.82[AMR][1000 genomes]
rs12405323	0.82[AMR][1000 genomes]
rs12409985	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1333134	0.87[AFR][1000 genomes]
rs1333141	0.89[AFR][1000 genomes]
rs1333145	0.89[AFR][1000 genomes]
rs1333147	0.92[AFR][1000 genomes]
rs1333148	0.89[AFR][1000 genomes]
rs1333149	0.89[AFR][1000 genomes]
rs1412890	0.82[AMR][1000 genomes]
rs1591148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1591150	0.87[AMR][1000 genomes]
rs17350305	0.80[EUR][1000 genomes]
rs2027020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2421324	0.90[AFR][1000 genomes]
rs4281371	0.87[AMR][1000 genomes]
rs4363474	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4399219	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6665215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6689586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6699303	0.93[AFR][1000 genomes]
rs7519067	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1012584	chr1:170367098-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv1002109	chr1:170367098-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv441720	chr1:170367646-170387205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv1010414	chr1:170367650-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv2764177	chr1:170367650-170387331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	nsv1004916	chr1:170367650-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv1000945	chr1:170367650-170401770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv1000840	chr1:170367736-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv1000663	chr1:170370782-170387193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
16	nsv1000790	chr1:170370782-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170381200-170389200	Weak transcription	Fetal Stomach	stomach
2	chr1:170384800-170393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:170384800-170395800	Weak transcription	Fetal Heart	heart
4	chr1:170386600-170393200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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