Variant report

Variant	rs10496137
Chromosome Location	chr2:67152355-67152356
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	NFIC	chr2:67152074-67152713	ECC-1	luminal epithelium:	n/a	chr2:67152414-67152431
2	EP300	chr2:67152224-67152546	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr2:67152245-67152522	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr2:67152340-67152490	GM12867	blood:	n/a	n/a
5	STAT3	chr2:67152334-67152572	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr2:67152183-67152654	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr2:67152262-67152550	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr2:67152084-67152707	SK-N-SH	brain:	n/a	n/a
9	MAX	chr2:67152265-67152563	Hela-S3	cervix:	n/a	n/a
10	NFIC	chr2:67152150-67152683	ECC-1	luminal epithelium:	n/a	chr2:67152414-67152431
11	NR3C1	chr2:67152314-67152495	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr2:67152233-67152615	Hela-S3	cervix:	n/a	chr2:67152406-67152417
13	SMC3	chr2:67152248-67152597	Hela-S3	cervix:	n/a	n/a
14	FOS	chr2:67152288-67152643	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr2:67152036-67152595	SK-N-SH	brain:	n/a	n/a
16	TEAD4	chr2:67152183-67152668	ECC-1	luminal epithelium:	n/a	n/a
17	TEAD4	chr2:67152189-67152512	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000232688	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10167484	0.91[CHB][hapmap]
rs10170124	0.82[ASN][1000 genomes]
rs10176733	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10177813	0.90[CHB][hapmap]
rs10183135	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10186923	0.91[CHB][hapmap]
rs10190086	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10196555	0.82[AFR][1000 genomes]
rs10197753	0.91[CHB][hapmap]
rs12713575	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12713576	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs12713578	0.82[ASN][1000 genomes]
rs12713581	0.82[AFR][1000 genomes]
rs12713585	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713586	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713587	0.87[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713588	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995173	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13009433	0.82[ASN][1000 genomes]
rs13015121	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13020124	0.81[ASN][1000 genomes]
rs13387078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559602	0.81[ASN][1000 genomes]
rs17632177	0.81[ASN][1000 genomes]
rs2113769	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2861285	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35156489	0.81[ASN][1000 genomes]
rs4671161	0.91[CHB][hapmap]
rs4671755	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4671756	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs6546272	0.88[YRI][hapmap]
rs6715872	0.81[ASN][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	esv2762259	chr2:67109728-67165987	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67141800-67152400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:67145400-67156600	Weak transcription	Fetal Heart	heart
3	chr2:67151000-67152600	Enhancers	Hela-S3	cervix
4	chr2:67151000-67153400	Enhancers	NHEK	skin
5	chr2:67151800-67152400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:67151800-67152600	Enhancers	Ovary	ovary
7	chr2:67151800-67152600	Enhancers	NHDF-Ad	bronchial
8	chr2:67151800-67152800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:67151800-67153200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:67152000-67152800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:67152000-67153400	Enhancers	HMEC	breast
12	chr2:67152200-67153600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:67152200-67153600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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