Variant report

Variant	rs12361994
Chromosome Location	chr11:71886630-71886631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11235459	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12361490	0.86[EUR][1000 genomes]
rs12361650	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3493111	chr11:71850822-71893073	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3493112	chr11:71850822-71893073	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435918	chr11:71851427-71890983	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv5948	chr11:71851479-71890582	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3359634	chr11:71851533-71892403	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2513904	chr11:71852934-71892793	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12361994	RP11-807H22.6	cis	Whole Blood	GTEx
rs12361994	FOLR3	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71882400-71887800	Weak transcription	Gastric	stomach
2	chr11:71884000-71886800	Enhancers	Fetal Intestine Large	intestine
3	chr11:71884200-71887600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:71884400-71887800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:71884600-71887600	Weak transcription	Colonic Mucosa	Colon
6	chr11:71886000-71892600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:71886200-71887600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:71886200-71890600	Weak transcription	NHEK	skin
9	chr11:71886200-71890800	Weak transcription	HMEC	breast
10	chr11:71886200-71891200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:71886400-71887400	Weak transcription	Fetal Intestine Small	intestine
12	chr11:71886400-71887800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:71886400-71888800	Weak transcription	Hela-S3	cervix
14	chr11:71886400-71889000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:71886400-71890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:71886400-71891000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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