Variant report

Variant	rs4833233
Chromosome Location	chr4:122688744-122688745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10001889	0.91[ASN][1000 genomes]
rs10004284	0.91[ASN][1000 genomes]
rs10007956	0.91[ASN][1000 genomes]
rs10013916	0.91[ASN][1000 genomes]
rs10023020	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10024820	0.88[ASN][1000 genomes]
rs10084948	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11098643	0.91[ASN][1000 genomes]
rs11724322	0.92[ASN][1000 genomes]
rs11732666	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11733882	0.88[ASN][1000 genomes]
rs11734075	0.94[ASN][1000 genomes]
rs11947643	0.82[AFR][1000 genomes]
rs12510839	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13106764	0.91[ASN][1000 genomes]
rs13108419	0.90[ASN][1000 genomes]
rs13119055	0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs13127488	0.82[JPT][hapmap]
rs13130789	0.99[ASN][1000 genomes]
rs13131003	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs13133876	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs13140070	0.92[ASN][1000 genomes]
rs13143218	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs13145213	0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13151345	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs13152701	0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1507993	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs17005256	0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2271176	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs28435300	0.92[ASN][1000 genomes]
rs28522256	0.92[ASN][1000 genomes]
rs28672860	0.92[ASN][1000 genomes]
rs3217772	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs34445121	0.92[ASN][1000 genomes]
rs35341163	0.86[ASN][1000 genomes]
rs35495505	0.85[ASN][1000 genomes]
rs3762840	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3805158	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs3811742	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4833234	0.95[ASN][1000 genomes]
rs4833235	0.95[ASN][1000 genomes]
rs4833236	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4833772	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4833773	0.99[ASN][1000 genomes]
rs4833775	0.92[ASN][1000 genomes]
rs5004355	0.91[ASN][1000 genomes]
rs67150579	0.92[ASN][1000 genomes]
rs67775544	0.85[ASN][1000 genomes]
rs6811867	0.88[ASN][1000 genomes]
rs6830443	0.91[ASN][1000 genomes]
rs6845901	0.88[ASN][1000 genomes]
rs72915905	0.83[AFR][1000 genomes]
rs7661218	0.93[LWK][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs769236	0.88[ASN][1000 genomes]
rs884701	0.82[JPT][hapmap]
rs951974	0.81[JPT][hapmap]
rs953691	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs966555	0.86[ASN][1000 genomes]
rs9993206	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9995319	0.88[ASN][1000 genomes]
rs9998785	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9999362	0.91[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4833233	FGF2	cis	cerebellum	SCAN
rs4833233	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL
rs4833233	CCNA2	Cis_1M	lymphoblastoid	RTeQTL
rs4833233	BBS7	cis	parietal	SCAN
rs4833233	EXOSC9	cis	lymphoblastoid	seeQTL
rs4833233	BBS7	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122686800-122689600	Weak transcription	Ovary	ovary
2	chr4:122687600-122689200	Weak transcription	NHDF-Ad	bronchial
3	chr4:122687600-122695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:122688400-122689400	Enhancers	Fetal Heart	heart

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