Variant report

Variant	rs1214001
Chromosome Location	chr11:85379511-85379512
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	MAFF	chr11:85379242-85379538	HepG2	liver:	n/a	n/a
2	MAFK	chr11:85379237-85379546	HepG2	liver:	n/a	chr11:85379407-85379421
3	MAFK	chr11:85379269-85379536	IMR90	lung:	n/a	chr11:85379407-85379421
4	MAFK	chr11:85379277-85379524	HepG2	liver:	n/a	chr11:85379407-85379421

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85373551..85376887-chr11:85377014..85379944,4	K562	blood:

Variant related genes	Relation type
CREBZF	TF binding region
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10501595	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11234359	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs11604028	0.83[ASN][1000 genomes]
rs11820071	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1192	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12417341	0.95[ASN][1000 genomes]
rs12419172	0.87[ASW][hapmap];0.89[CEU][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1354397	0.95[CHB][hapmap]
rs17148254	0.94[ASN][1000 genomes]
rs17148293	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17148306	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17208492	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs17208519	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17810659	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs188311	0.90[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs1892872	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs1991923	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2162055	0.89[ASN][1000 genomes]
rs2290823	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2467059	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs286499	0.94[CHB][hapmap]
rs290175	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290177	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs290178	0.86[ASN][1000 genomes]
rs290182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs290186	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.83[LWK][hapmap];0.80[MKK][hapmap];0.89[ASN][1000 genomes]
rs290194	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290196	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290199	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs35844123	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4280023	0.82[ASN][1000 genomes]
rs4943925	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs4944527	0.93[ASN][1000 genomes]
rs4944529	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.92[ASN][1000 genomes]
rs4944531	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944532	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs497698	0.88[ASN][1000 genomes]
rs510948	0.82[JPT][hapmap]
rs537266	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs537604	0.82[JPT][hapmap]
rs55739259	0.82[ASN][1000 genomes]
rs56073783	0.84[ASN][1000 genomes]
rs56579	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs56737296	0.82[ASN][1000 genomes]
rs57223077	0.84[ASN][1000 genomes]
rs573766	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs578324	0.85[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap]
rs58152312	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs583122	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs58931064	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs592712	0.82[JPT][hapmap]
rs60838923	0.87[ASN][1000 genomes]
rs609012	0.82[JPT][hapmap]
rs61286868	0.83[ASN][1000 genomes]
rs613973	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs650036	0.88[JPT][hapmap]
rs653559	0.88[JPT][hapmap]
rs6592252	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6592253	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs681044	0.82[JPT][hapmap]
rs688741	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs7108132	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7108137	0.84[ASN][1000 genomes]
rs7115250	0.93[ASN][1000 genomes]
rs7119617	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939217	0.88[ASN][1000 genomes]
rs7943586	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7948778	1.00[CHB][hapmap]
rs881121	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.93[ASN][1000 genomes]
rs947861	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.94[ASN][1000 genomes]
rs947862	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs947863	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1214001	CCDC89	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85376200-85384000	Weak transcription	Small Intestine	intestine
2	chr11:85376600-85380200	Weak transcription	Right Atrium	heart
3	chr11:85377000-85381800	Weak transcription	Liver	Liver
4	chr11:85377000-85382200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:85377000-85383800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:85377200-85382000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:85378000-85382000	Weak transcription	HepG2	liver

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