Variant report

Variant	rs827182
Chromosome Location	chr3:157966612-157966613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1095625	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095631	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1103981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11915781	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193519	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520657	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520662	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520666	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1589522	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608099	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724650	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724725	0.82[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1730038	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680416	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441191	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779266	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788695	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804180	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698978	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170371	0.87[EUR][1000 genomes]
rs7651712	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827105	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827107	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827115	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827116	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827117	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827119	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827133	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827138	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827152	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827183	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827189	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845600	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv829768	chr3:157832878-158012070	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs827182	RSRC1	cis	uninvolved skin	skin_eQTL
rs827182	RSRC1	cis	lesional skin	skin_eQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157914200-157984400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:157927000-157968800	Weak transcription	Psoas Muscle	Psoas
3	chr3:157948200-157970600	Weak transcription	Dnd41	blood
4	chr3:157949400-157970400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:157953800-157974000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:157955400-157967000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:157960400-157968400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:157962400-157968800	Weak transcription	Primary B cells from cord blood	blood
9	chr3:157962800-157968600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:157962800-157969400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:157963000-157967000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:157963600-157973000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:157963800-157995800	Weak transcription	Gastric	stomach
14	chr3:157964000-157969000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:157964600-157979600	Weak transcription	Small Intestine	intestine
16	chr3:157965400-157967600	Enhancers	GM12878-XiMat	blood
17	chr3:157965800-157977400	Weak transcription	Ovary	ovary
18	chr3:157966000-157973800	Weak transcription	Primary T cells from cord blood	blood
19	chr3:157966000-157984600	Weak transcription	Left Ventricle	heart
20	chr3:157966200-157966800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:157966200-157967000	Enhancers	Fetal Heart	heart

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