Variant report

Variant	rs4756912
Chromosome Location	chr11:17722622-17722623
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	STAT3	chr11:17722579-17722842	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:17722508-17722868	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:17722508-17722876	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr11:17722513-17722844	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:17722526-17722857	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr11:17722484-17722875	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr11:17722557-17722908	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:17722507-17722894	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr11:17722539-17722856	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17722486..17724717-chr11:17727954..17730842,2	K562	blood:

Variant related genes	Relation type
ENSG00000255335	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10766420	0.84[EUR][1000 genomes]
rs10766421	0.88[ASN][1000 genomes]
rs10766423	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832844	0.88[ASN][1000 genomes]
rs10832845	0.87[EUR][1000 genomes]
rs11605964	0.88[ASN][1000 genomes]
rs12785437	0.86[EUR][1000 genomes]
rs12785942	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2336846	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2336847	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2336848	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2878806	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2878807	0.86[EUR][1000 genomes]
rs3858499	0.86[EUR][1000 genomes]
rs3858501	0.86[EUR][1000 genomes]
rs3858502	0.86[EUR][1000 genomes]
rs3858506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858508	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3901226	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs3901370	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs3911833	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs4081578	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4403789	0.83[ASN][1000 genomes]
rs4756910	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756914	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4757570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757574	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4757575	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6416178	0.81[EUR][1000 genomes]
rs6486390	0.81[EUR][1000 genomes]
rs6486393	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101870	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7106809	0.85[EUR][1000 genomes]
rs7109072	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7123420	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17719000-17724400	Enhancers	Fetal Muscle Leg	muscle
2	chr11:17721200-17723200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr11:17721200-17723600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:17721800-17722800	Weak transcription	Placenta	Placenta
5	chr11:17721800-17722800	Weak transcription	HSMMtube	muscle
6	chr11:17721800-17729000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:17721800-17729400	Weak transcription	Psoas Muscle	Psoas
8	chr11:17722200-17722800	Enhancers	HMEC	breast
9	chr11:17722200-17723200	Enhancers	Fetal Lung	lung
10	chr11:17722200-17723400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:17722400-17722800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:17722400-17722800	Enhancers	Brain Substantia Nigra	brain
13	chr11:17722600-17723000	Enhancers	Brain Angular Gyrus	brain

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