Variant report

Variant	rs55749412
Chromosome Location	chr2:56179009-56179010
allele	C/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	SRF	chr2:56178705-56179107	ECC-1	luminal epithelium:	n/a	n/a
2	SRF	chr2:56178668-56179151	H1-hESC	embryonic stem cell:	n/a	n/a
3	SRF	chr2:56178738-56179053	ECC-1	luminal epithelium:	n/a	n/a
4	SP1	chr2:56178628-56179048	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-5	chr2:56178789-56179149	NONHSAT070810

Variant related genes	Relation type
ENSG00000272180	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10518794	1.00[EUR][1000 genomes]
rs13429887	0.84[EUR][1000 genomes]
rs14282	0.84[EUR][1000 genomes]
rs55676306	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55811442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55845766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886642	0.84[EUR][1000 genomes]
rs55912959	0.85[EUR][1000 genomes]
rs56058144	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56195925	0.85[EUR][1000 genomes]
rs56309449	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56412571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811719	0.84[EUR][1000 genomes]
rs72813864	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813868	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813873	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813875	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813877	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813878	0.85[EUR][1000 genomes]
rs72813879	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813880	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813884	0.85[EUR][1000 genomes]
rs72813888	0.85[EUR][1000 genomes]
rs72813889	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813894	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813900	0.89[AMR][1000 genomes]
rs72813901	0.89[AMR][1000 genomes]
rs72813902	0.89[AMR][1000 genomes]
rs72815903	0.89[AMR][1000 genomes]
rs72815905	0.89[AMR][1000 genomes]
rs72815906	0.89[AMR][1000 genomes]
rs72815909	0.89[AMR][1000 genomes]
rs72815910	0.89[AMR][1000 genomes]
rs72815912	0.89[AMR][1000 genomes]
rs7600678	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56171000-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:56175600-56181400	Weak transcription	HUVEC	blood vessel
3	chr2:56176000-56181400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:56176400-56181000	Weak transcription	Osteobl	bone
5	chr2:56176400-56181400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:56176600-56181200	Weak transcription	Fetal Kidney	kidney
7	chr2:56177000-56181400	Weak transcription	Hela-S3	cervix
8	chr2:56178000-56185200	Weak transcription	Right Atrium	heart
9	chr2:56178800-56180600	Active TSS	Stomach Smooth Muscle	stomach
10	chr2:56179000-56180000	Active TSS	Fetal Stomach	stomach

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