Variant report

Variant	rs1158867
Chromosome Location	chr2:128177377-128177378
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	chr2:128176890-128177576	HepG2	liver:	n/a	n/a
2	HEY1	chr2:128175747-128177435	HepG2	liver:	n/a	n/a
3	CTCF	chr2:128177320-128177470	HepG2	liver:	n/a	chr2:128177430-128177439
4	POLR2A	chr2:128175737-128177495	HepG2	liver:	n/a	n/a
5	MYBL2	chr2:128175595-128177696	HepG2	liver:	n/a	n/a
6	MBD4	chr2:128175663-128177420	HepG2	liver:	n/a	n/a
7	MAX	chr2:128175611-128177655	HepG2	liver:	n/a	chr2:128176450-128176460 chr2:128176449-128176459 chr2:128176449-128176460 chr2:128176253-128176262 chr2:128176450-128176460 chr2:128176448-128176461 chr2:128176448-128176461 chr2:128176449-128176460 chr2:128176450-128176459 chr2:128176449-128176460 chr2:128176448-128176461 chr2:128176449-128176459 chr2:128176445-128176464
8	POLR2A	chr2:128177003-128177445	HepG2	liver:	n/a	n/a
9	RCOR1	chr2:128176522-128177413	IMR90	lung:	n/a	n/a
10	TEAD4	chr2:128175515-128177422	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:128175249-128180723	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:128175695-128177493	HepG2	liver:	n/a	n/a
13	NFIC	chr2:128175606-128177482	HepG2	liver:	n/a	n/a
14	MBD4	chr2:128175614-128177601	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:128175672-128177814	HepG2	liver:	n/a	n/a
16	RAD21	chr2:128177285-128177452	HepG2	liver:	n/a	n/a
17	SP2	chr2:128176914-128177419	HepG2	liver:	n/a	chr2:128177148-128177171
18	POLR2A	chr2:128176905-128177698	K562	blood:	n/a	n/a
19	HEY1	chr2:128175687-128177560	HepG2	liver:	n/a	n/a
20	MYBL2	chr2:128175540-128177606	HepG2	liver:	n/a	n/a
21	HNF4A	chr2:128175824-128177441	HepG2	liver:	n/a	chr2:128176274-128176286 chr2:128176273-128176286 chr2:128176274-128176286 chr2:128176190-128176204 chr2:128176273-128176286
22	RCOR1	chr2:128177348-128177530	HepG2	liver:	n/a	n/a
23	CTCF	chr2:128177360-128177510	HepG2	liver:	n/a	chr2:128177430-128177439

Variant related genes	Relation type
PROC	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11683986	0.87[MEX][hapmap]
rs1799809	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069901	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2069904	0.81[MEX][hapmap]
rs3732209	0.81[MEX][hapmap]
rs4662726	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5937	0.86[MEX][hapmap]
rs61185143	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6753288	0.83[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6755028	1.00[MEX][hapmap]
rs7590030	0.81[MEX][hapmap]
rs7599210	0.82[ASW][hapmap];0.83[CEU][hapmap];0.91[GIH][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583036	chr2:128173819-128183914	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Protein C levels	20802025	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1158867	ERCC3	cis	parietal	SCAN
rs1158867	MAP3K2	cis	multi-tissue	Pritchard
rs1158867	MAP3K2	cis	Skin Sun Exposed Lower leg	GTEx
rs1158867	ERCC3	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128174000-128177800	Enhancers	A549	lung
2	chr2:128174000-128180600	Weak transcription	Right Atrium	heart
3	chr2:128174800-128180400	Weak transcription	Spleen	Spleen
4	chr2:128175000-128180000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:128175600-128177800	Weak transcription	Fetal Thymus	thymus
6	chr2:128176200-128178000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:128176200-128179800	Weak transcription	Dnd41	blood
8	chr2:128176400-128180400	Weak transcription	Pancreas	Pancrea
9	chr2:128176800-128177400	Enhancers	NHDF-Ad	bronchial
10	chr2:128176800-128179800	Weak transcription	Gastric	stomach
11	chr2:128177000-128177400	Flanking Active TSS	HepG2	liver
12	chr2:128177000-128178000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr2:128177000-128178400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr2:128177200-128177400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr2:128177200-128177600	Active TSS	Liver	Liver
16	chr2:128177200-128178000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:128177200-128178000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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