Variant report

Variant	rs2800552
Chromosome Location	chr10:38643616-38643617
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	POLR2A	chr10:38643240-38646387	HepG2	liver:	n/a	n/a
2	HEY1	chr10:38643441-38643738	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:38643273-38643667	HepG2	liver:	n/a	n/a
4	FOXA1	chr10:38643300-38644459	HepG2	liver:	n/a	n/a
5	HEY1	chr10:38642929-38646746	HepG2	liver:	n/a	n/a
6	TBP	chr10:38643501-38643733	HepG2	liver:	n/a	n/a
7	MYBL2	chr10:38643182-38644486	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:38643290-38643618	HepG2	liver:	n/a	n/a
9	FOSL2	chr10:38642997-38643720	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:38643230-38643627	HepG2	liver:	n/a	n/a
11	SP1	chr10:38643265-38644446	HepG2	liver:	n/a	n/a
12	EP300	chr10:38643383-38643703	HepG2	liver:	n/a	n/a
13	NFIC	chr10:38643369-38643694	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:38643433-38644151	HepG2	liver:	n/a	n/a
15	FOSL2	chr10:38643293-38643675	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
HSD17B7P2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17611180	0.81[ASN][1000 genomes]
rs1892144	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2145672	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2754353	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2754361	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2754363	0.84[ASN][1000 genomes]
rs2754366	0.88[ASN][1000 genomes]
rs2754370	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2754493	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2754495	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800473	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2800551	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2800555	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2804622	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2804623	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2804624	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2804637	0.96[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2804638	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2804639	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2804641	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2804643	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2804677	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6482064	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9299772	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9418368	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv33710	chr10:38545898-38671289	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv427860	chr10:38588021-38818835	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv895034	chr10:38632352-38743545	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv947859	chr10:38633447-38674546	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2764202	chr10:38641508-39076221	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2800552	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs2800552	HSD17B7P2	cis	Whole Blood	GTEx
rs2800552	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38642800-38644800	Weak transcription	Pancreas	Pancrea
2	chr10:38643600-38647000	Active TSS	HepG2	liver

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