Variant report

Variant	rs13033289
Chromosome Location	chr2:67674538-67674539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12998271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13009682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018229	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1915481	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34241844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36063453	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4627546	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4629142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13033289	CD207	cis	parietal	SCAN
rs13033289	POMZP3	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67664600-67678400	Weak transcription	Aorta	Aorta
2	chr2:67672400-67674600	Enhancers	Fetal Lung	lung
3	chr2:67672400-67675200	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:67672600-67674600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:67672800-67674600	Enhancers	Colon Smooth Muscle	Colon
6	chr2:67672800-67674600	Enhancers	NHEK	skin
7	chr2:67672800-67674800	Enhancers	Stomach Mucosa	stomach
8	chr2:67672800-67674800	Enhancers	Hela-S3	cervix
9	chr2:67673000-67674600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:67673000-67674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:67673000-67675000	Enhancers	A549	lung
12	chr2:67673200-67674600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:67673200-67674800	Enhancers	HMEC	breast
14	chr2:67673400-67674600	Enhancers	NH-A	brain
15	chr2:67673600-67674600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:67674000-67675600	Weak transcription	Fetal Heart	heart
17	chr2:67674200-67678600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:67674400-67678800	Weak transcription	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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