Variant report

Variant	rs17168819
Chromosome Location	chr7:136628299-136628300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10228048	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10267979	0.98[ASN][1000 genomes]
rs10488599	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10488600	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1111418	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1364407	0.82[CHB][hapmap];0.93[CHD][hapmap]
rs1364408	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1364409	0.82[CHB][hapmap]
rs1424546	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs17168815	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350782	0.84[JPT][hapmap]
rs4475425	0.84[JPT][hapmap]
rs58394792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943656	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6945736	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6969811	0.89[JPT][hapmap]
rs73158732	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73158742	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73158743	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73158749	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158750	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777727	0.89[JPT][hapmap]
rs7782965	0.82[CHB][hapmap]
rs7806357	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs960677	0.86[CHB][hapmap];0.95[JPT][hapmap]

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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17168819	CHCHD3	cis	parietal	SCAN
rs17168819	WDR91	cis	parietal	SCAN
rs17168819	BPGM	cis	parietal	SCAN
rs17168819	MKRN1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136607800-136638000	Weak transcription	NHLF	lung
2	chr7:136623400-136641600	Weak transcription	Right Ventricle	heart
3	chr7:136623600-136641600	Weak transcription	Left Ventricle	heart
4	chr7:136625400-136629000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:136625600-136628600	Enhancers	Fetal Heart	heart
6	chr7:136626600-136628600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:136627800-136631400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:136628000-136629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:136628000-136631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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