Variant report

Variant	rs2493891
Chromosome Location	chr6:113848016-113848017
allele	A/C/G/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	FOS	chr6:113847836-113848477	MCF10A-Er-Src	breast:	n/a	chr6:113848016-113848025
2	MYC	chr6:113847718-113848109	MCF10A-Er-Src	breast:	n/a	chr6:113847878-113847885 chr6:113847877-113847888 chr6:113847877-113847887 chr6:113847876-113847889 chr6:113847878-113847887 chr6:113847876-113847891
3	STAT3	chr6:113847822-113848602	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:113847877-113848077	MCF10A-Er-Src	breast:	n/a	chr6:113848016-113848025
5	JUN	chr6:113847993-113848110	HepG2	liver:	n/a	chr6:113848016-113848025 chr6:113848015-113848028
6	JUND	chr6:113847946-113848061	H1-hESC	embryonic stem cell:	n/a	chr6:113848016-113848025
7	FOS	chr6:113847891-113848036	MCF10A-Er-Src	breast:	n/a	chr6:113848016-113848025
8	MYC	chr6:113847803-113848109	MCF10A-Er-Src	breast:	n/a	chr6:113847878-113847885 chr6:113847877-113847888 chr6:113847877-113847887 chr6:113847876-113847889 chr6:113847878-113847887 chr6:113847876-113847891
9	POLR2A	chr6:113847909-113848022	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr6:113847859-113848071	MCF10A-Er-Src	breast:	n/a	n/a
11	JUND	chr6:113847892-113848146	HepG2	liver:	n/a	chr6:113848016-113848025

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:113847511..113849509-chr6:113849941..113851506,2	MCF-7	breast:
2	chr6:113844930..113849247-chr6:113849858..113854073,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236347	TF binding region
ENSG00000236347	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1481432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1585973	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600767	0.97[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075218	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17075221	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1904994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982686	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2493884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2493885	1.00[EUR][1000 genomes]
rs3963300	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4337960	1.00[EUR][1000 genomes]
rs531979	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549875	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303196	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57194334	1.00[EUR][1000 genomes]
rs58875635	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58891033	1.00[EUR][1000 genomes]
rs59844934	1.00[EUR][1000 genomes]
rs59950054	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60295562	1.00[EUR][1000 genomes]
rs60504130	1.00[EUR][1000 genomes]
rs61320559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61734440	0.94[ASN][1000 genomes]
rs6913809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926011	1.00[EUR][1000 genomes]
rs6926826	1.00[CHB][hapmap]
rs6927150	1.00[CHB][hapmap]
rs6927480	1.00[CHB][hapmap]
rs6927568	1.00[CHB][hapmap]
rs6935853	1.00[ASN][1000 genomes]
rs6942149	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73531703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73531704	1.00[ASN][1000 genomes]
rs73531705	1.00[ASN][1000 genomes]
rs73531708	1.00[ASN][1000 genomes]
rs73531717	1.00[ASN][1000 genomes]
rs73547807	0.88[ASN][1000 genomes]
rs73547876	0.88[ASN][1000 genomes]
rs73547891	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73549618	1.00[ASN][1000 genomes]
rs73549630	1.00[ASN][1000 genomes]
rs73549634	1.00[ASN][1000 genomes]
rs73549650	1.00[ASN][1000 genomes]
rs73549652	0.89[ASN][1000 genomes]
rs73549655	1.00[ASN][1000 genomes]
rs73765222	0.88[ASN][1000 genomes]
rs73765224	1.00[EUR][1000 genomes]
rs73765225	1.00[EUR][1000 genomes]
rs73765232	0.88[ASN][1000 genomes]
rs73765247	1.00[EUR][1000 genomes]
rs73765248	1.00[ASN][1000 genomes]
rs73765256	1.00[EUR][1000 genomes]
rs73765261	1.00[EUR][1000 genomes]
rs73765266	1.00[EUR][1000 genomes]
rs73765267	1.00[EUR][1000 genomes]
rs73765271	1.00[EUR][1000 genomes]
rs73765272	1.00[EUR][1000 genomes]
rs73765273	1.00[EUR][1000 genomes]
rs73765283	1.00[EUR][1000 genomes]
rs7745709	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7749447	1.00[EUR][1000 genomes]
rs7752840	1.00[EUR][1000 genomes]
rs7753356	0.88[ASN][1000 genomes]
rs7753869	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7754686	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7758501	1.00[CHB][hapmap]
rs7758523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7759659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488238	1.00[CHB][hapmap]

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	nsv916294	chr6:113518489-113904305	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113846800-113850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:113846800-113851800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:113847600-113848200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:113847600-113848400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:113847600-113848400	Enhancers	NHEK	skin
6	chr6:113847600-113849000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:113847600-113849200	Enhancers	HMEC	breast
8	chr6:113847800-113848400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:113847800-113848800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:113847800-113851000	Enhancers	Fetal Heart	heart
11	chr6:113848000-113850600	Weak transcription	NHLF	lung

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