Variant report

Variant	rs1802609
Chromosome Location	chr11:71847080-71847081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
FOLR3	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000257075	Chromatin interaction
ENSG00000110203	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12576505	0.82[ASN][1000 genomes]
rs1802608	1.00[ASN][1000 genomes]
rs533207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57527670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57607585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58798436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60177475	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926360	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926875	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927110	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939676	0.82[ASN][1000 genomes]
rs7939902	0.82[ASN][1000 genomes]
rs7950807	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1802609	RP11-807H22.6	cis	Whole Blood	GTEx
rs1802609	FOLR3	cis	Whole Blood	GTEx
rs1802609	FOLR2	cis	Whole Blood	GTEx
rs1802609	FOLR3	cis	Thyroid	GTEx
rs1802609	FOLR3	cis	lung	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71828400-71850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71834400-71851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:71844000-71847400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:71844600-71847800	Weak transcription	NHEK	skin
5	chr11:71845600-71848800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:71845800-71847800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:71846600-71848800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr11:71846800-71848800	Active TSS	Primary B cells from cord blood	blood
9	chr11:71846800-71850600	Weak transcription	Spleen	Spleen
10	chr11:71846800-71853400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:71847000-71847200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:71847000-71847200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:71847000-71847400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:71847000-71847400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:71847000-71847400	Enhancers	HSMMtube	muscle
16	chr11:71847000-71848000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:71847000-71848000	Enhancers	Esophagus	oesophagus
18	chr11:71847000-71848200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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