Variant report

Variant	rs4701676
Chromosome Location	chr5:17012775-17012776
allele	A/G
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: 60 )
Associated
traits (count: 1 )

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	0.87[AFR][1000 genomes];0.93[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	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11952906	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11959127	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12656631	0.86[ASN][1000 genomes]
rs13180256	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13181713	0.93[AMR][1000 genomes];0.94[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	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4360041	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4701673	0.88[ASN][1000 genomes]
rs4701674	0.86[ASN][1000 genomes]
rs4701675	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701677	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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62369738	0.90[ASN][1000 genomes]
rs62369739	0.91[ASN][1000 genomes]
rs6873589	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6875279	0.89[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	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7727270	0.89[ASN][1000 genomes]
rs7732829	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7733016	0.89[ASN][1000 genomes]
rs7734046	0.88[ASN][1000 genomes]
rs904753	0.88[ASN][1000 genomes]
rs954604	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv597311	chr5:16980857-17012775	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	esv1794754	chr5:16993278-17012775	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1798338	chr5:16993278-17012775	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1802802	chr5:16993278-17012775	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv15389	chr5:16999166-17012826	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1795581	chr5:17000364-17012775	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1796695	chr5:17000364-17012775	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1799153	chr5:17000364-17012775	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1799417	chr5:17000364-17012775	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1802067	chr5:17000364-17012775	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1802158	chr5:17000364-17012775	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1796588	chr5:17000364-17033610	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	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
21	esv1794623	chr5:17003017-17018360	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1800046	chr5:17003017-17018360	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4701676	FBXL7	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17012000-17012800	Enhancers	NH-A	brain
2	chr5:17012000-17013000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:17012000-17013000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:17012000-17013200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:17012000-17013200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:17012400-17012800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:17012400-17013000	Enhancers	HMEC	breast
8	chr5:17012400-17013000	Enhancers	HUVEC	blood vessel
9	chr5:17012400-17013200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:17012400-17013200	Enhancers	NHEK	skin
11	chr5:17012400-17013400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:17012400-17013400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:17012400-17013800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:17012600-17013200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:17012600-17013200	Flanking Active TSS	A549	lung
16	chr5:17012600-17013600	Enhancers	Hela-S3	cervix

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