Variant report

Variant	rs2279573
Chromosome Location	chr8:62366438-62366439
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	JUND	chr8:62366316-62366931	T-47D	breast:	n/a	chr8:62366495-62366507
2	HDAC2	chr8:62366399-62366882	MCF-7	breast:	n/a	chr8:62366560-62366574 chr8:62366519-62366533
3	GATA3	chr8:62366323-62366907	MCF-7	breast:	n/a	n/a
4	ELF1	chr8:62366366-62366890	MCF-7	breast:	n/a	n/a
5	GATA3	chr8:62366395-62366839	T-47D	breast:	n/a	n/a
6	FOXA1	chr8:62366424-62366808	T-47D	breast:	n/a	n/a
7	GATA3	chr8:62366385-62366796	T-47D	breast:	n/a	n/a
8	ELF1	chr8:62366371-62366880	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CLVS1	TF binding region

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10093414	0.88[JPT][hapmap]
rs10504327	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs10504328	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs10504329	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs10504330	0.88[JPT][hapmap]
rs12682574	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13256758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13258160	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13270887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927446	0.88[JPT][hapmap]
rs16927448	0.88[JPT][hapmap]
rs16927460	0.88[JPT][hapmap]
rs16927536	0.88[JPT][hapmap]
rs16927566	0.88[JPT][hapmap]
rs17198387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17200413	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17200553	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17200623	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17201182	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17201219	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17788825	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17788873	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17789341	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17790020	0.83[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17790471	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17790639	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs2610520	1.00[JPT][hapmap]
rs2640232	1.00[JPT][hapmap]
rs2640237	1.00[JPT][hapmap]
rs28493454	0.93[EUR][1000 genomes]
rs34736794	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35328313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012122	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs71525451	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71525452	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7824533	0.91[CEU][hapmap]
rs7830314	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs7831797	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7839684	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62310400-62368200	Weak transcription	Fetal Brain Female	brain
2	chr8:62364400-62380800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:62365800-62366600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:62365800-62367400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr8:62366200-62366600	Enhancers	Placenta	Placenta
6	chr8:62366200-62366800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:62366200-62366800	Enhancers	Brain Anterior Caudate	brain

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