Variant report

Variant	rs4833235
Chromosome Location	chr4:122695136-122695137
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10001092	0.87[EUR][1000 genomes]
rs10001697	0.88[EUR][1000 genomes]
rs10001889	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10004284	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10007956	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10012775	0.88[EUR][1000 genomes]
rs10013916	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10020581	0.88[EUR][1000 genomes]
rs10023020	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10024820	0.92[ASN][1000 genomes]
rs10024878	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10028375	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10084948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10212738	0.88[EUR][1000 genomes]
rs1048433	1.00[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11098640	0.88[EUR][1000 genomes]
rs11098641	0.87[EUR][1000 genomes]
rs11098643	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11721457	0.82[CHB][hapmap]
rs11724322	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11732666	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11733882	0.92[ASN][1000 genomes]
rs11734075	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11934307	0.88[EUR][1000 genomes]
rs12510839	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13104233	0.88[EUR][1000 genomes]
rs13106764	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13108419	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13113338	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13113421	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13114801	0.87[EUR][1000 genomes]
rs13117282	0.89[AFR][1000 genomes]
rs13119055	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13127488	0.90[CHB][hapmap];0.86[JPT][hapmap];0.89[AFR][1000 genomes]
rs13128434	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13130789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13131003	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs13133876	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs13140070	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13143218	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs13145213	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs13145558	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13151345	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs13152701	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1507993	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17005256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2271176	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2292232	0.82[CHB][hapmap]
rs28394772	0.87[EUR][1000 genomes]
rs28435300	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28522256	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28615388	0.88[EUR][1000 genomes]
rs28672860	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3217772	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34445121	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35341163	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35495505	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3762840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3805158	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs3805161	0.82[CHB][hapmap]
rs3811742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4075065	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4075066	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4240262	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4240263	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4240264	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4315813	0.88[EUR][1000 genomes]
rs4361412	0.84[EUR][1000 genomes]
rs4455438	0.88[EUR][1000 genomes]
rs4516738	0.87[EUR][1000 genomes]
rs4833232	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4833233	0.86[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4833234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4833769	0.88[EUR][1000 genomes]
rs4833770	0.88[EUR][1000 genomes]
rs4833771	1.00[YRI][hapmap]
rs4833773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4833775	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833778	0.82[CHB][hapmap]
rs5004355	0.94[ASN][1000 genomes]
rs67150579	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67775544	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6811867	0.92[ASN][1000 genomes]
rs6822155	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6827573	0.88[EUR][1000 genomes]
rs6828650	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6830443	0.94[ASN][1000 genomes]
rs6845901	0.92[ASN][1000 genomes]
rs7676867	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs769236	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7698889	0.88[EUR][1000 genomes]
rs7699289	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs884701	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs951974	1.00[ASW][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.89[AFR][1000 genomes]
rs953691	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs966555	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9993206	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9995319	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9995322	0.88[EUR][1000 genomes]
rs9998385	0.87[EUR][1000 genomes]
rs9998785	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9999362	0.94[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
rs4833235	BBS7	cis	cerebellum	SCAN
rs4833235	EXOSC9	cis	lymphoblastoid	seeQTL
rs4833235	BBS7	cis	parietal	SCAN
rs4833235	CCNA2	cis	lymphoblastoid	seeQTL
rs4833235	CCNA2	Cis_1M	lymphoblastoid	RTeQTL
rs4833235	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122687600-122695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:122689400-122695400	Weak transcription	Fetal Heart	heart
3	chr4:122693000-122697800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:122693800-122695400	Enhancers	GM12878-XiMat	blood
5	chr4:122695000-122695400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr4:122695000-122695400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:122695000-122695600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:122695000-122696000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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