Variant report

Variant	rs4946743
Chromosome Location	chr6:106810481-106810482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106808617..106811340-chr6:106821545..106823616,2	MCF-7	breast:
2	chr6:106797423..106799839-chr6:106808275..106811190,3	MCF-7	breast:
3	chr6:106788817..106792867-chr6:106807861..106810730,3	MCF-7	breast:
4	chr6:106808965..106810935-chr6:106838431..106840040,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1092759	0.81[EUR][1000 genomes]
rs2255914	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2749086	0.81[EUR][1000 genomes]
rs2787516	0.81[EUR][1000 genomes]
rs2787519	0.81[EUR][1000 genomes]
rs2791112	0.80[EUR][1000 genomes]
rs2791113	0.80[EUR][1000 genomes]
rs3844148	0.82[EUR][1000 genomes]
rs3862833	0.81[EUR][1000 genomes]
rs488282	0.81[EUR][1000 genomes]
rs4946744	0.82[EUR][1000 genomes]
rs4946745	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs510405	0.80[EUR][1000 genomes]
rs514902	0.81[EUR][1000 genomes]
rs518405	0.81[EUR][1000 genomes]
rs522871	0.81[EUR][1000 genomes]
rs532726	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs557444	0.81[EUR][1000 genomes]
rs557640	0.81[EUR][1000 genomes]
rs670561	0.81[EUR][1000 genomes]
rs6916119	0.80[EUR][1000 genomes]
rs710094	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72945593	0.82[EUR][1000 genomes]
rs7747057	0.81[EUR][1000 genomes]
rs7747478	0.81[EUR][1000 genomes]
rs7762351	0.81[EUR][1000 genomes]
rs7767309	0.81[EUR][1000 genomes]
rs803521	0.81[EUR][1000 genomes]
rs9372124	0.80[EUR][1000 genomes]
rs9372125	0.80[EUR][1000 genomes]
rs9372126	0.80[EUR][1000 genomes]
rs9373855	0.81[EUR][1000 genomes]
rs9384605	0.81[EUR][1000 genomes]
rs9386529	0.81[EUR][1000 genomes]
rs9386530	0.81[EUR][1000 genomes]
rs9399986	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1031707	chr6:106803325-106896650	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106810200-106810600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:106810200-106810600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:106810200-106810600	Flanking Active TSS	HMEC	breast
4	chr6:106810400-106810600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:106810400-106810600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:106810400-106810600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:106810400-106810600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
8	chr6:106810400-106810600	Transcr. at gene 5' and 3'	NHEK	skin
9	chr6:106810400-106817200	Weak transcription	Fetal Intestine Large	intestine

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