Variant report

Variant	rs7926987
Chromosome Location	chr11:71849503-71849504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158173537..158174154-chr11:71849446..71849946,2	K562	blood:
2	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:

Variant related genes	Relation type
ENSG00000176320	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1062452	0.82[YRI][hapmap]
rs12574182	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12576505	0.82[ASN][1000 genomes]
rs1802608	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1802609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533207	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57527670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57607585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58798436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60177475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925055	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925545	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926360	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926875	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939676	0.82[ASN][1000 genomes]
rs7939902	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7950807	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[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	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
2	nsv1054858	chr11:71847797-71880291	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7926987	FOLR2	cis	Whole Blood	GTEx
rs7926987	FOLR3	cis	Thyroid	GTEx
rs7926987	RP11-807H22.6	cis	Whole Blood	GTEx
rs7926987	FOLR3	cis	Whole Blood	GTEx
rs7926987	FOLR3	cis	lung	GTEx

Chromatin state (count:26 , 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	chr11:71846800-71850600	Weak transcription	Spleen	Spleen
4	chr11:71846800-71853400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:71847400-71851000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:71847600-71850600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:71847600-71850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:71847600-71851000	Weak transcription	NH-A	brain
9	chr11:71847800-71850800	Weak transcription	Osteobl	bone
10	chr11:71847800-71851400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
11	chr11:71848000-71850400	Weak transcription	Esophagus	oesophagus
12	chr11:71848000-71850600	Weak transcription	NHDF-Ad	bronchial
13	chr11:71848000-71850800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:71848000-71852000	Weak transcription	HSMMtube	muscle
15	chr11:71848000-71852600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:71848200-71850000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:71848200-71850800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:71848400-71850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:71848400-71854600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:71848600-71850400	Weak transcription	NHEK	skin
21	chr11:71848600-71850800	Weak transcription	Hela-S3	cervix
22	chr11:71848800-71849800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
23	chr11:71848800-71849800	Enhancers	Primary B cells from cord blood	blood
24	chr11:71848800-71851600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
25	chr11:71849200-71851000	Weak transcription	Fetal Intestine Large	intestine
26	chr11:71849200-71852800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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