Variant report

Variant	rs6727122
Chromosome Location	chr2:208939857-208939858
allele	A/T
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	CEBPB	chr2:208939806-208939944	K562	blood:	n/a	n/a
2	JUND	chr2:208939737-208939915	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:208939622-208939988	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr2:208939760-208939910	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
ENSG00000238582	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10932231	0.97[ASN][1000 genomes]
rs10932232	0.96[ASN][1000 genomes]
rs10932233	0.97[ASN][1000 genomes]
rs10932238	0.91[ASN][1000 genomes]
rs11681747	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683477	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11694118	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11892539	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11892554	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894673	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896152	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11896248	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12465847	0.87[ASN][1000 genomes]
rs12987978	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16840404	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17538082	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2123296	0.91[ASN][1000 genomes]
rs34100088	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35306034	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4234085	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4287753	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673378	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4675729	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675730	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675731	0.91[ASN][1000 genomes]
rs62192797	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711974	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723206	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727089	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735060	0.91[ASN][1000 genomes]
rs6746998	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7422654	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7422655	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896637	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	esv2760541	chr2:208936949-208945639	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv519691	chr2:208938866-208940023	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208939200-208940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:208939200-208940000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:208939400-208940000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:208939400-208940200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:208939600-208940000	Enhancers	Fetal Heart	heart
6	chr2:208939600-208940000	Enhancers	Right Ventricle	heart
7	chr2:208939800-208940000	Active TSS	Brain Hippocampus Middle	brain
8	chr2:208939800-208940000	Enhancers	Rectal Mucosa Donor 31	rectum

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