Variant report

Variant	rs134185
Chromosome Location	chr22:28635673-28635674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs134169	0.89[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134170	0.82[ASW][hapmap];0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134174	0.81[JPT][hapmap];0.96[AFR][1000 genomes]
rs134184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134187	0.84[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes]
rs135640	0.93[LWK][hapmap];0.91[MKK][hapmap]
rs16986354	0.85[LWK][hapmap]
rs4820782	0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs5762481	1.00[ASW][hapmap];0.84[CEU][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap]
rs5762549	0.91[JPT][hapmap]
rs9608667	0.81[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs134185	SUSD2	cis	parietal	SCAN
rs134185	CABP7	cis	cerebellum	SCAN
rs134185	GNAZ	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28639600	Weak transcription	Ovary	ovary
2	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
3	chr22:28620400-28639200	Weak transcription	Left Ventricle	heart
4	chr22:28628000-28639400	Weak transcription	Fetal Heart	heart
5	chr22:28628200-28643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:28628600-28639000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:28628600-28640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28628600-28640800	Weak transcription	NHLF	lung
9	chr22:28631400-28640800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:28632200-28640200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:28632400-28640800	Weak transcription	Aorta	Aorta
12	chr22:28633600-28639600	Weak transcription	HSMM	muscle
13	chr22:28633600-28640800	Weak transcription	HSMMtube	muscle
14	chr22:28634200-28640800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:28635600-28650800	Weak transcription	Dnd41	blood

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Input of quick search could be:

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

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