Variant report

Variant	rs535842
Chromosome Location	chr22:27621151-27621152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs509317	0.89[CEU][hapmap];0.83[EUR][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	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1064910	chr22:27609597-27648408	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs535842	SDF2L1	cis	parietal	SCAN
rs535842	SEZ6L	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27619200-27622800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr22:27619400-27621200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:27619400-27621200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:27619600-27621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:27619600-27621800	Enhancers	Fetal Stomach	stomach
6	chr22:27620000-27621600	Enhancers	Adipose Nuclei	Adipose
7	chr22:27620600-27621200	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:27620800-27621200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr22:27620800-27621200	Flanking Active TSS	HSMMtube	muscle
10	chr22:27621000-27621200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:27621000-27621200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr22:27621000-27621200	Enhancers	Rectal Smooth Muscle	rectum
13	chr22:27621000-27621200	Enhancers	HSMM	muscle
14	chr22:27621000-27621200	Enhancers	Osteobl	bone
15	chr22:27621000-27621400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:27621000-27621400	Bivalent Enhancer	NHLF	lung
17	chr22:27621000-27622000	Enhancers	Ovary	ovary
18	chr22:27621000-27622400	Weak transcription	HUVEC	blood vessel
19	chr22:27621000-27622600	Enhancers	Fetal Intestine Large	intestine
20	chr22:27621000-27623000	Enhancers	NH-A	brain

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