Variant report

Variant	rs72855411
Chromosome Location	chr4:69986849-69986850
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	chr4:69986571-69986950	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr4:69986570-69986960	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr4:69986520-69986963	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr4:69986527-69986966	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:69986692-69986892	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:69986610-69986932	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:69986547-69987002	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr4:69986551-69986976	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000251284	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs12640790	0.83[EUR][1000 genomes]
rs12645107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12646304	0.83[EUR][1000 genomes]
rs12647599	0.83[EUR][1000 genomes]
rs12648462	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12649866	0.83[EUR][1000 genomes]
rs12650658	0.83[EUR][1000 genomes]
rs35151589	0.83[EUR][1000 genomes]
rs35264089	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4309909	0.83[EUR][1000 genomes]
rs4326076	0.83[EUR][1000 genomes]
rs4326077	0.83[EUR][1000 genomes]
rs4438816	0.83[EUR][1000 genomes]
rs4472206	0.83[EUR][1000 genomes]
rs4479775	0.83[EUR][1000 genomes]
rs4479776	0.80[EUR][1000 genomes]
rs4593202	0.83[EUR][1000 genomes]
rs4593203	0.83[EUR][1000 genomes]
rs4604120	0.83[EUR][1000 genomes]
rs4611998	0.83[EUR][1000 genomes]
rs4615240	0.83[EUR][1000 genomes]
rs55762706	0.81[EUR][1000 genomes]
rs56016159	0.82[EUR][1000 genomes]
rs57025126	0.81[EUR][1000 genomes]
rs57226662	0.82[EUR][1000 genomes]
rs57244408	0.81[EUR][1000 genomes]
rs57449680	0.83[EUR][1000 genomes]
rs57955338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58042229	0.83[EUR][1000 genomes]
rs58077880	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58174838	0.89[EUR][1000 genomes]
rs58655780	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58826998	0.83[EUR][1000 genomes]
rs58878867	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59514779	0.82[EUR][1000 genomes]
rs59704026	0.82[EUR][1000 genomes]
rs59970425	0.90[EUR][1000 genomes]
rs59983350	0.83[EUR][1000 genomes]
rs60162445	0.83[EUR][1000 genomes]
rs60749735	0.83[EUR][1000 genomes]
rs61137241	0.81[EUR][1000 genomes]
rs61162302	0.88[EUR][1000 genomes]
rs61174505	0.88[EUR][1000 genomes]
rs61220696	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61281368	0.83[EUR][1000 genomes]
rs61658486	0.83[EUR][1000 genomes]
rs6818992	0.86[EUR][1000 genomes]
rs6833862	0.88[EUR][1000 genomes]
rs6838793	0.83[EUR][1000 genomes]
rs6857759	0.83[EUR][1000 genomes]
rs72851317	0.88[EUR][1000 genomes]
rs72851318	0.87[EUR][1000 genomes]
rs72851322	0.87[EUR][1000 genomes]
rs72851362	0.89[EUR][1000 genomes]
rs72851371	0.84[EUR][1000 genomes]
rs72851378	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72851379	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72852429	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72852498	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72853561	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72853597	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72855408	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72855460	0.83[EUR][1000 genomes]
rs72855468	0.83[EUR][1000 genomes]
rs72855469	0.83[EUR][1000 genomes]
rs72855471	0.83[EUR][1000 genomes]
rs72855482	0.84[EUR][1000 genomes]
rs73823891	0.83[EUR][1000 genomes]
rs73823894	0.83[EUR][1000 genomes]
rs73826069	0.88[EUR][1000 genomes]
rs7438042	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7660744	0.89[EUR][1000 genomes]
rs7666267	0.81[EUR][1000 genomes]
rs7674201	0.83[EUR][1000 genomes]
rs7677390	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7685017	0.83[EUR][1000 genomes]
rs7685409	0.83[EUR][1000 genomes]
rs7698243	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv594583	chr4:69928642-69988378	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv427683	chr4:69929701-70414172	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv522091	chr4:69932587-69988378	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv999858	chr4:69933262-70676525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv1000261	chr4:69954600-70642254	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv537134	chr4:69954600-70642254	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv879380	chr4:69961912-70046930	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv879381	chr4:69972086-70046930	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv879382	chr4:69972086-70066719	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv1806087	chr4:69975196-70276308	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69981600-69990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69986200-69987200	Enhancers	Fetal Intestine Small	intestine
3	chr4:69986400-69989800	Weak transcription	NHEK	skin
4	chr4:69986600-69987000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:69986800-69987000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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