Variant report

Variant	rs1455244
Chromosome Location	chr18:11494199-11494200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr18:11494119-11494430	HepG2	liver:	n/a	n/a
2	HNF4G	chr18:11494154-11494366	HepG2	liver:	n/a	n/a
3	FOXA1	chr18:11494151-11494427	HepG2	liver:	n/a	n/a
4	FOS	chr18:11494102-11494543	HUVEC	blood vessel:	n/a	n/a
5	TEAD4	chr18:11493995-11494582	HepG2	liver:	n/a	n/a
6	FOXA1	chr18:11494021-11494497	HepG2	liver:	n/a	n/a
7	JUN	chr18:11494172-11494471	HepG2	liver:	n/a	n/a
8	EP300	chr18:11494048-11494408	HepG2	liver:	n/a	n/a
9	FOSL2	chr18:11494105-11494462	HepG2	liver:	n/a	n/a
10	FOXA2	chr18:11494165-11494464	HepG2	liver:	n/a	n/a
11	EP300	chr18:11494160-11494442	HepG2	liver:	n/a	n/a
12	SP1	chr18:11494037-11494482	HepG2	liver:	n/a	n/a
13	MXI1	chr18:11494144-11494414	HepG2	liver:	n/a	n/a
14	FOXA1	chr18:11493966-11494554	HepG2	liver:	n/a	n/a
15	FOSL2	chr18:11494166-11494478	HepG2	liver:	n/a	n/a
16	MAFK	chr18:11494186-11494379	HepG2	liver:	n/a	n/a
17	MAFF	chr18:11494196-11494410	HepG2	liver:	n/a	n/a
18	JUND	chr18:11494057-11494470	HepG2	liver:	n/a	n/a
19	ARID3A	chr18:11493958-11494614	HepG2	liver:	n/a	chr18:11494545-11494561
20	EP300	chr18:11494042-11494423	HepG2	liver:	n/a	n/a
21	TEAD4	chr18:11494163-11494365	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11487890..11489675-chr18:11493773..11495986,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267564	TF binding region
ENSG00000267564	Chromatin interaction
ENSG00000267252	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12327397	0.80[EUR][1000 genomes]
rs2219170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479999	0.83[CEU][hapmap]
rs480187	0.83[CEU][hapmap]
rs489812	0.80[EUR][1000 genomes]
rs495434	0.84[CEU][hapmap]
rs508777	0.80[EUR][1000 genomes]
rs535691	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs566680	0.83[CEU][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs6505656	0.80[EUR][1000 genomes]
rs6505658	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505659	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7226808	0.92[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];0.82[MKK][hapmap]
rs7231219	0.80[EUR][1000 genomes]
rs921804	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9954648	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Schizophrenia	23212062	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1455244	KIAA0802	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11493400-11494400	Enhancers	HepG2	liver
2	chr18:11493800-11494200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr18:11493800-11494800	Enhancers	NH-A	brain
4	chr18:11493800-11495000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:11493800-11495000	Enhancers	HMEC	breast
6	chr18:11493800-11495000	Enhancers	HUVEC	blood vessel
7	chr18:11493800-11496800	Enhancers	HSMMtube	muscle
8	chr18:11493800-11502400	Enhancers	HSMM	muscle
9	chr18:11493800-11502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:11493800-11502600	Enhancers	NHDF-Ad	bronchial
11	chr18:11494000-11494200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:11494000-11494400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:11494000-11494800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr18:11494000-11494800	Enhancers	NHEK	skin
15	chr18:11494000-11495000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:11494000-11495000	Enhancers	Osteobl	bone

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