Variant report

Variant	rs9368830
Chromosome Location	chr6:34668635-34668636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34663907..34669185-chr6:34723600..34728462,6	MCF-7	breast:
2	chr6:34663483..34667506-chr6:34667607..34669948,3	K562	blood:
3	chr6:34664734..34666755-chr6:34668036..34669637,2	K562	blood:

Variant related genes	Relation type
ENSG00000196821	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000272288	Chromatin interaction

Extended variants
information (count: 183 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs10807141	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10947531	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10947532	0.82[EUR][1000 genomes]
rs1125340	0.82[EUR][1000 genomes]
rs1125341	0.82[EUR][1000 genomes]
rs11755420	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11757370	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11759151	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11965761	0.84[EUR][1000 genomes]
rs1201873	0.82[ASN][1000 genomes]
rs1201874	0.83[ASN][1000 genomes]
rs12201281	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13198620	0.83[EUR][1000 genomes]
rs1543558	0.82[EUR][1000 genomes]
rs1543559	0.82[EUR][1000 genomes]
rs188190	0.83[ASN][1000 genomes]
rs1998702	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2038839	0.83[EUR][1000 genomes]
rs2038840	0.81[EUR][1000 genomes]
rs2038841	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs205259	0.83[ASN][1000 genomes]
rs205286	0.83[ASN][1000 genomes]
rs2395598	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2395599	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2395604	0.82[EUR][1000 genomes]
rs2395606	0.83[EUR][1000 genomes]
rs2477507	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2477508	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2492860	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2492861	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744941	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2744943	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744944	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2744949	0.86[ASN][1000 genomes]
rs2744957	0.88[ASN][1000 genomes]
rs2744959	0.86[ASN][1000 genomes]
rs2744961	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2764197	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2764198	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2764201	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2764206	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2764207	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2764208	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2764210	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2764211	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814945	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814947	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814949	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2814951	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814952	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814953	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814955	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2814956	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2814957	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814958	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814959	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814961	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814963	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814966	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814967	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2814968	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2814969	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814970	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814975	0.81[ASN][1000 genomes]
rs2814984	0.85[ASN][1000 genomes]
rs2814987	0.88[ASN][1000 genomes]
rs2814988	0.86[ASN][1000 genomes]
rs2814991	0.87[ASN][1000 genomes]
rs2814995	0.81[ASN][1000 genomes]
rs2815001	0.88[ASN][1000 genomes]
rs2815004	0.88[ASN][1000 genomes]
rs28675115	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34141614	0.82[EUR][1000 genomes]
rs34493158	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3734268	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3777752	0.83[EUR][1000 genomes]
rs3798348	0.83[EUR][1000 genomes]
rs3798352	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4513788	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4601124	0.83[EUR][1000 genomes]
rs58671447	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58843872	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59162539	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66506671	0.83[EUR][1000 genomes]
rs6899938	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6900188	0.85[EUR][1000 genomes]
rs6900847	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6905393	0.83[EUR][1000 genomes]
rs6906759	0.87[EUR][1000 genomes]
rs6907244	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6921363	0.83[EUR][1000 genomes]
rs6929567	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6937784	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6940395	0.84[EUR][1000 genomes]
rs6942040	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71556966	0.83[EUR][1000 genomes]
rs7341253	0.81[EUR][1000 genomes]
rs7341267	0.87[EUR][1000 genomes]
rs7341329	0.87[EUR][1000 genomes]
rs7739766	0.86[EUR][1000 genomes]
rs7739771	0.82[EUR][1000 genomes]
rs7741398	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7741437	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7742652	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7745097	0.81[EUR][1000 genomes]
rs7752060	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7752522	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7755926	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7755982	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7756009	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7756405	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7756949	0.85[EUR][1000 genomes]
rs7758082	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7759128	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7759227	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7763224	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7763987	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7768759	0.81[EUR][1000 genomes]
rs7769820	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7769961	0.82[EUR][1000 genomes]
rs7771778	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7774697	0.82[EUR][1000 genomes]
rs7776219	0.81[EUR][1000 genomes]
rs912716	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9296127	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9296129	0.83[EUR][1000 genomes]
rs9348950	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9357181	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366863	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9368832	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380454	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9462006	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9462009	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9462010	0.85[EUR][1000 genomes]
rs9462011	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9462015	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9462018	0.81[EUR][1000 genomes]
rs9462019	0.81[EUR][1000 genomes]
rs9462020	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9462021	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9462022	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9462023	0.83[EUR][1000 genomes]
rs9462024	0.83[EUR][1000 genomes]
rs9469857	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469858	0.80[EUR][1000 genomes]
rs9469859	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9469861	0.82[EUR][1000 genomes]
rs9469862	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469863	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9469869	0.81[EUR][1000 genomes]
rs9469870	0.87[EUR][1000 genomes]
rs9469871	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469872	0.86[EUR][1000 genomes]
rs9469878	0.80[EUR][1000 genomes]
rs9469879	0.83[EUR][1000 genomes]
rs9469882	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9469883	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9469884	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469885	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469887	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469889	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469891	0.83[EUR][1000 genomes]
rs9469892	0.83[EUR][1000 genomes]
rs9469893	0.82[EUR][1000 genomes]
rs9469894	0.81[EUR][1000 genomes]
rs9469902	0.80[EUR][1000 genomes]
rs9689516	0.84[EUR][1000 genomes]
rs9689820	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs998278	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs9368830	UHRF1BP1	cis	lung	GTEx
rs9368830	UHRF1BP1	cis	Whole Blood	GTEx
rs9368830	UHRF1BP1	cis	Stomach	GTEx
rs9368830	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs9368830	UHRF1BP1	cis	Nerve Tibial	GTEx
rs9368830	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs9368830	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs9368830	UHRF1BP1	cis	Artery Tibial	GTEx
rs9368830	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs9368830	UHRF1BP1	cis	Artery Aorta	GTEx
rs9368830	UHRF1BP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34665800-34671600	Weak transcription	A549	lung
2	chr6:34666200-34669400	Weak transcription	HepG2	liver
3	chr6:34667200-34672200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links