Variant report

Variant	rs13322337
Chromosome Location	chr3:54087474-54087475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr3:54087053-54087574	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr3:54087176-54087502	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr3:54087040-54087516	H1-neurons	neurons:	n/a	n/a
4	REST	chr3:54086852-54087641	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
CABYRP1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11130383	1.00[AMR][1000 genomes]
rs11130384	1.00[AMR][1000 genomes]
rs12715465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13319005	1.00[AMR][1000 genomes]
rs13321898	1.00[AMR][1000 genomes]
rs28409957	1.00[AMR][1000 genomes]
rs28560392	1.00[AMR][1000 genomes]
rs6782007	1.00[AMR][1000 genomes]
rs6785238	1.00[AMR][1000 genomes]
rs6802878	1.00[AMR][1000 genomes]
rs7640840	1.00[AMR][1000 genomes]
rs9814675	1.00[AMR][1000 genomes]
rs9816010	1.00[AMR][1000 genomes]
rs9816122	1.00[AMR][1000 genomes]
rs9818571	1.00[AMR][1000 genomes]
rs9823141	1.00[AMR][1000 genomes]
rs9828425	1.00[AMR][1000 genomes]
rs9830052	1.00[AMR][1000 genomes]
rs9830672	1.00[AMR][1000 genomes]
rs9833359	1.00[AMR][1000 genomes]
rs9834168	1.00[AMR][1000 genomes]
rs9835258	1.00[AMR][1000 genomes]
rs9844994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9845702	1.00[AMR][1000 genomes]
rs9849610	1.00[AMR][1000 genomes]
rs9852243	1.00[AMR][1000 genomes]
rs9859937	1.00[AMR][1000 genomes]
rs9861079	1.00[AMR][1000 genomes]
rs9878250	1.00[AMR][1000 genomes]
rs9882134	1.00[AMR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1005411	chr3:53927782-54158638	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54076800-54088400	Weak transcription	Lung	lung
2	chr3:54081400-54090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:54085000-54087800	Weak transcription	Aorta	Aorta
4	chr3:54085200-54094400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:54087000-54087800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:54087000-54088000	Enhancers	Stomach Mucosa	stomach
7	chr3:54087000-54088000	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:54087000-54088200	Enhancers	Gastric	stomach
9	chr3:54087200-54087600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:54087200-54087600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:54087200-54087600	Enhancers	Brain Anterior Caudate	brain
12	chr3:54087200-54087800	Enhancers	HUES64 Cell Line	embryonic stem cell

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