Variant report

Variant	rs2798356
Chromosome Location	chr1:47632096-47632097
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	CTCF	chr1:47632020-47632170	HepG2	liver:	n/a	n/a
2	CTCF	chr1:47632067-47632198	HepG2	liver:	n/a	n/a
3	FOXA2	chr1:47631870-47632330	A549	lung:	n/a	n/a
4	CTCF	chr1:47632023-47632198	K562	blood:	n/a	n/a
5	CTCF	chr1:47632040-47632190	GM12873	blood:	n/a	n/a
6	CTCF	chr1:47632040-47632190	GM12868	blood:	n/a	n/a
7	CTCF	chr1:47632020-47632170	GM12872	blood:	n/a	n/a
8	FOXA2	chr1:47631984-47632153	HepG2	liver:	n/a	n/a
9	CTCF	chr1:47632020-47632170	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZK1IP1-4	chr1:47632037-47633802	ucscGeneNc_uc001crj_1

Variant related genes	Relation type
MTND1P34	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10789500	0.84[EUR][1000 genomes]
rs10789501	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10789503	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890460	0.82[EUR][1000 genomes]
rs10890462	0.81[EUR][1000 genomes]
rs10890464	0.82[EUR][1000 genomes]
rs10890465	0.82[EUR][1000 genomes]
rs10890466	0.83[EUR][1000 genomes]
rs10890467	0.83[EUR][1000 genomes]
rs10890468	0.84[EUR][1000 genomes]
rs10890470	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1110425	0.81[EUR][1000 genomes]
rs11211450	0.82[EUR][1000 genomes]
rs11211454	0.80[EUR][1000 genomes]
rs11211457	0.81[EUR][1000 genomes]
rs11211459	0.81[EUR][1000 genomes]
rs11211463	0.82[EUR][1000 genomes]
rs11211464	0.86[EUR][1000 genomes]
rs11211471	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11211472	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11211475	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12037014	0.80[EUR][1000 genomes]
rs12042073	0.83[EUR][1000 genomes]
rs12046348	0.83[EUR][1000 genomes]
rs12046525	0.83[EUR][1000 genomes]
rs12124648	0.83[EUR][1000 genomes]
rs12734327	0.82[EUR][1000 genomes]
rs1847222	0.82[EUR][1000 genomes]
rs1847223	0.82[EUR][1000 genomes]
rs1847224	0.82[EUR][1000 genomes]
rs1967756	0.82[EUR][1000 genomes]
rs1967757	0.82[EUR][1000 genomes]
rs2208772	0.84[EUR][1000 genomes]
rs2224622	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2742079	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798352	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2821082	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28462300	0.82[EUR][1000 genomes]
rs28796303	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3850876	0.83[EUR][1000 genomes]
rs4314923	0.81[EUR][1000 genomes]
rs4926785	0.81[EUR][1000 genomes]
rs4926786	0.81[EUR][1000 genomes]
rs4926787	0.81[EUR][1000 genomes]
rs4926788	0.81[EUR][1000 genomes]
rs4926789	0.81[EUR][1000 genomes]
rs4926791	0.81[EUR][1000 genomes]
rs4926792	0.81[EUR][1000 genomes]
rs4926793	0.81[EUR][1000 genomes]
rs4926797	0.81[EUR][1000 genomes]
rs4926804	0.81[EUR][1000 genomes]
rs4926805	0.80[EUR][1000 genomes]
rs4926809	0.81[EUR][1000 genomes]
rs4926826	0.82[EUR][1000 genomes]
rs4926869	0.82[EUR][1000 genomes]
rs4926918	0.88[EUR][1000 genomes]
rs6664392	0.82[EUR][1000 genomes]
rs6664496	0.82[EUR][1000 genomes]
rs6675902	0.81[EUR][1000 genomes]
rs6690005	0.81[EUR][1000 genomes]
rs6693145	0.81[EUR][1000 genomes]
rs6701611	0.81[EUR][1000 genomes]
rs7519903	0.81[EUR][1000 genomes]
rs7522639	0.82[EUR][1000 genomes]
rs7526674	0.82[EUR][1000 genomes]
rs7540264	0.81[EUR][1000 genomes]
rs7547893	0.80[EUR][1000 genomes]
rs760440	0.87[EUR][1000 genomes]
rs760441	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs760442	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs911903	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs911909	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9633421	0.83[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	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47596400-47641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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