Variant report

Variant	rs4701677
Chromosome Location	chr5:17013022-17013023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16883490..16885617-chr5:17011887..17014186,2	MCF-7	breast:
2	chr5:16935331..16937898-chr5:17010889..17014144,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10070446	0.82[ASN][1000 genomes]
rs10074279	0.88[ASN][1000 genomes]
rs11133869	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11749259	0.88[ASN][1000 genomes]
rs11948777	0.88[ASN][1000 genomes]
rs11949513	0.90[ASN][1000 genomes]
rs11952906	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11959127	0.91[ASN][1000 genomes]
rs12656631	0.86[ASN][1000 genomes]
rs13180256	0.91[ASN][1000 genomes]
rs13181713	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806622	0.88[ASN][1000 genomes]
rs1909726	0.86[ASN][1000 genomes]
rs2402337	0.88[ASN][1000 genomes]
rs35525756	0.90[ASN][1000 genomes]
rs4129967	0.93[ASN][1000 genomes]
rs4360041	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4701673	0.88[ASN][1000 genomes]
rs4701674	0.86[ASN][1000 genomes]
rs4701675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701676	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702184	0.86[ASN][1000 genomes]
rs4702187	0.93[ASN][1000 genomes]
rs58370320	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62369738	0.90[ASN][1000 genomes]
rs62369739	0.91[ASN][1000 genomes]
rs6873589	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6875279	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6877901	0.86[ASN][1000 genomes]
rs7709189	0.91[ASN][1000 genomes]
rs7714749	0.90[ASN][1000 genomes]
rs7727270	0.89[ASN][1000 genomes]
rs7732829	0.90[ASN][1000 genomes]
rs7733016	0.89[ASN][1000 genomes]
rs7734046	0.88[ASN][1000 genomes]
rs904753	0.88[ASN][1000 genomes]
rs954604	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1793716	chr5:16989318-17019351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1796588	chr5:17000364-17033610	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1794623	chr5:17003017-17018360	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1800046	chr5:17003017-17018360	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:17012000-17013200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:17012000-17013200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:17012400-17013200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:17012400-17013200	Enhancers	NHEK	skin
5	chr5:17012400-17013400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:17012400-17013400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:17012400-17013800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:17012600-17013200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:17012600-17013200	Flanking Active TSS	A549	lung
10	chr5:17012600-17013600	Enhancers	Hela-S3	cervix
11	chr5:17013000-17018200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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