Variant report

Variant	rs1667244
Chromosome Location	chr18:29167905-29167906
allele	A/G
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	TCF7L2	chr18:29167486-29168025	HepG2	liver:	n/a	n/a
2	FOXA2	chr18:29167421-29167928	HepG2	liver:	n/a	chr18:29167825-29167837
3	JUND	chr18:29167566-29167950	HepG2	liver:	n/a	chr18:29167926-29167938
4	MYBL2	chr18:29167323-29167967	HepG2	liver:	n/a	n/a
5	FOXA1	chr18:29167466-29167909	HepG2	liver:	n/a	chr18:29167825-29167837
6	EP300	chr18:29167432-29167960	HepG2	liver:	n/a	n/a
7	MYBL2	chr18:29167398-29167995	HepG2	liver:	n/a	n/a
8	EP300	chr18:29167403-29167926	HepG2	liver:	n/a	n/a
9	ARID3A	chr18:29167488-29167920	HepG2	liver:	n/a	n/a
10	HDAC2	chr18:29167328-29167948	HepG2	liver:	n/a	chr18:29167851-29167865
11	SP1	chr18:29167325-29167950	HepG2	liver:	n/a	n/a
12	TEAD4	chr18:29167312-29168063	HepG2	liver:	n/a	chr18:29167836-29167845 chr18:29167592-29167601
13	FOXA1	chr18:29167424-29167986	HepG2	liver:	n/a	chr18:29167825-29167837
14	NFIC	chr18:29167380-29167934	HepG2	liver:	n/a	n/a
15	NR2F2	chr18:29167268-29167973	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TTR	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1080093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1080094	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11081702	0.81[EUR][1000 genomes]
rs11662311	0.83[EUR][1000 genomes]
rs1375445	0.81[EUR][1000 genomes]
rs1375446	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1611949	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1616887	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1667237	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667239	0.81[EUR][1000 genomes]
rs1667255	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1667258	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17660933	0.81[EUR][1000 genomes]
rs1791197	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1791198	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1791199	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1791201	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1791228	0.96[ASN][1000 genomes]
rs1791229	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2034404	0.81[EUR][1000 genomes]
rs2420813	0.84[EUR][1000 genomes]
rs2704058	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3764476	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs3764479	0.84[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs3794884	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4799581	0.99[EUR][1000 genomes]
rs4799583	0.93[EUR][1000 genomes]
rs6506932	0.98[EUR][1000 genomes]
rs7235277	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs723744	0.84[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs7243588	1.00[EUR][1000 genomes];0.82[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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1066881	chr18:29149752-29180840	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29165600-29168000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:29165600-29168200	Enhancers	Fetal Intestine Small	intestine
3	chr18:29166400-29171000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr18:29166600-29168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:29167000-29168000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:29167200-29175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:29167400-29168000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:29167400-29168000	Enhancers	Liver	Liver
9	chr18:29167800-29168200	Weak transcription	Fetal Intestine Large	intestine
10	chr18:29167800-29170000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:29167800-29171200	Enhancers	HepG2	liver

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