Variant report

Variant	rs872451
Chromosome Location	chr12:122686109-122686110
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:122686053-122688248	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
2	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
3	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
4	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
5	chr12:122685909..122687516-chr12:122700477..122703234,2	MCF-7	breast:
6	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
7	chr12:122236965..122238991-chr12:122683290..122686252,2	K562	blood:

No data

Variant related genes	Relation type
B3GNT4	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10270	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10846470	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11060167	0.91[CEU][hapmap]
rs11060333	0.91[CEU][hapmap]
rs11060802	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11061609	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12423987	0.82[CEU][hapmap]
rs12424872	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs12578815	0.91[CEU][hapmap]
rs12580084	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs12810587	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs12814923	0.91[CEU][hapmap]
rs12815512	0.82[EUR][1000 genomes]
rs12816499	0.91[CEU][hapmap]
rs12820704	0.90[CEU][hapmap]
rs12822121	0.83[CEU][hapmap]
rs12824701	0.82[CEU][hapmap]
rs12824925	0.91[CEU][hapmap]
rs12825149	0.91[CEU][hapmap]
rs12825279	0.91[CEU][hapmap]
rs12833379	0.83[EUR][1000 genomes]
rs1512023	0.82[CEU][hapmap]
rs2068223	0.91[CEU][hapmap]
rs2271408	0.91[CEU][hapmap]
rs2271409	0.91[CEU][hapmap]
rs2277332	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs34325222	0.85[EUR][1000 genomes]
rs3782154	0.87[CEU][hapmap]
rs3809116	0.91[CEU][hapmap]
rs4567503	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs4758649	0.91[CEU][hapmap]
rs4758650	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4758670	0.81[CEU][hapmap]
rs4758677	0.91[CEU][hapmap]
rs55741463	0.94[EUR][1000 genomes]
rs6488876	0.87[EUR][1000 genomes]
rs7298397	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7388	0.91[CEU][hapmap]
rs7957569	0.83[EUR][1000 genomes]
rs7962385	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7963144	0.87[EUR][1000 genomes]
rs7963565	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7964911	0.82[EUR][1000 genomes]
rs7965868	0.87[EUR][1000 genomes]
rs7970027	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs7972228	0.87[EUR][1000 genomes]
rs879132	0.88[EUR][1000 genomes]
rs907482	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs907483	0.84[EUR][1000 genomes]
rs9668064	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs872451	MLXIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122677800-122687400	Weak transcription	Right Atrium	heart
2	chr12:122683400-122687400	Weak transcription	Pancreas	Pancrea
3	chr12:122683400-122687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122683800-122687400	Weak transcription	K562	blood
5	chr12:122685400-122686400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122685600-122686200	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr12:122685600-122686200	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr12:122685600-122686400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:122685600-122687000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:122685600-122687400	Weak transcription	Gastric	stomach
11	chr12:122685800-122686200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:122685800-122686200	Bivalent Enhancer	HepG2	liver
13	chr12:122685800-122687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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