Variant report

Variant	rs17051397
Chromosome Location	chr4:122658940-122658941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122658895..122661532-chr4:122664516..122666924,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10001422	0.90[EUR][1000 genomes]
rs10011665	0.90[EUR][1000 genomes]
rs10470915	0.88[EUR][1000 genomes]
rs10471016	0.88[EUR][1000 genomes]
rs11930525	0.88[EUR][1000 genomes]
rs11937861	0.88[EUR][1000 genomes]
rs1574283	0.88[EUR][1000 genomes]
rs17051398	0.97[EUR][1000 genomes]
rs2621219	0.85[EUR][1000 genomes]
rs2706784	0.83[EUR][1000 genomes]
rs2706786	0.85[EUR][1000 genomes]
rs28515183	0.88[EUR][1000 genomes]
rs28676474	0.88[EUR][1000 genomes]
rs3903026	0.88[EUR][1000 genomes]
rs4309856	0.88[EUR][1000 genomes]
rs4508913	0.88[EUR][1000 genomes]
rs4522884	0.97[EUR][1000 genomes]
rs4571354	0.88[EUR][1000 genomes]
rs57312551	0.83[EUR][1000 genomes]
rs58127039	0.90[EUR][1000 genomes]
rs59796939	0.97[EUR][1000 genomes]
rs72913994	0.88[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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17051397	SMCHD1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122655800-122660800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:122656000-122659000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:122656400-122659800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:122657000-122662200	Weak transcription	Fetal Brain Male	brain
5	chr4:122657600-122660200	Enhancers	Fetal Heart	heart
6	chr4:122657600-122663200	Enhancers	Fetal Lung	lung
7	chr4:122657800-122661600	Enhancers	HSMM	muscle
8	chr4:122658000-122662800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:122658200-122659000	Weak transcription	Placenta	Placenta
10	chr4:122658200-122661200	Enhancers	Fetal Stomach	stomach
11	chr4:122658800-122660600	Enhancers	NHDF-Ad	bronchial

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