Variant report

Variant	rs871693
Chromosome Location	chr4:55708605-55708606
allele	C/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	SPI1	chr4:55708455-55708715	HL-60	blood:	n/a	chr4:55708622-55708629 chr4:55708620-55708633
2	GATA3	chr4:55708482-55708712	T-47D	breast:	n/a	chr4:55708588-55708597
3	ESR1	chr4:55708490-55708729	T-47D	breast:	n/a	n/a
4	SPI1	chr4:55708403-55708854	HL-60	blood:	n/a	chr4:55708622-55708629 chr4:55708620-55708633
5	HDAC2	chr4:55708365-55708947	MCF-7	breast:	n/a	n/a
6	NR2F2	chr4:55708307-55709011	MCF-7	breast:	n/a	n/a
7	ZNF217	chr4:55708298-55709045	MCF-7	breast:	n/a	n/a
8	NR2F2	chr4:55708430-55708984	MCF-7	breast:	n/a	n/a
9	GATA3	chr4:55708451-55708737	T-47D	breast:	n/a	chr4:55708588-55708597
10	GATA3	chr4:55708437-55708992	MCF-7	breast:	n/a	chr4:55708588-55708597
11	SIN3AK20	chr4:55708378-55709159	MCF-7	breast:	n/a	n/a
12	GATA3	chr4:55708268-55709130	MCF-7	breast:	n/a	chr4:55708588-55708597
13	TCF7L2	chr4:55708421-55708782	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:55647754..55648646-chr4:55708231..55709242,4	MCF-7	breast:
2	chr4:55524498..55525559-chr4:55707619..55708970,5	MCF-7	breast:
3	chr4:55530214..55530911-chr4:55708178..55708744,2	MCF-7	breast:
4	chr4:55708158..55708934-chr4:55820918..55821668,3	MCF-7	breast:
5	chr4:55452869..55453638-chr4:55708509..55709111,2	MCF-7	breast:
6	chr4:55707866..55710526-chr4:55713081..55715385,2	MCF-7	breast:
7	chr4:55524498..55525559-chr4:55707838..55708970,3	MCF-7	breast:
8	chr4:55708346..55709146-chr4:55827430..55828429,3	MCF-7	breast:
9	chr4:55708184..55709079-chr4:55827341..55828314,6	MCF-7	breast:
10	chr4:55708286..55708872-chr4:55827341..55828280,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251256	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1123272	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1497476	0.85[EUR][1000 genomes]
rs1497477	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1497491	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1497492	0.88[ASN][1000 genomes]
rs17695485	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1948607	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055222	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132879	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2132880	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2173228	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2646314	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2646316	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2646317	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2646318	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2646319	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2646320	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2646351	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2646355	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2646364	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2646365	0.88[ASN][1000 genomes]
rs2646368	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2646369	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2726610	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2726612	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2726613	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2726619	0.91[ASN][1000 genomes]
rs2726620	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2726621	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2726623	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2726626	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2726627	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2726628	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2726629	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2726630	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2726631	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2726632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28628137	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4280801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716919	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7662457	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7668976	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7686543	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7692346	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7697169	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs871692	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs871694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1836939	chr4:55701134-55716601	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55704600-55712600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:55705600-55711400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:55706600-55709000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:55706800-55709000	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:55706800-55709800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:55707000-55708800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:55707200-55708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:55707400-55708800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:55707800-55709000	Enhancers	Placenta	Placenta
10	chr4:55707800-55709600	Enhancers	Left Ventricle	heart
11	chr4:55708000-55708800	Weak transcription	Fetal Heart	heart
12	chr4:55708200-55708800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:55708200-55708800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:55708400-55709000	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:55708400-55709200	Enhancers	Fetal Stomach	stomach
16	chr4:55708400-55709600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:55708600-55709000	Enhancers	Fetal Lung	lung

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