Variant report

Variant	rs11750612
Chromosome Location	chr5:68262117-68262118
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	BCL3	chr5:68260303-68262196	GM12878	blood:	n/a	n/a
2	NFATC1	chr5:68261711-68262150	GM12878	blood:	n/a	n/a
3	BCL3	chr5:68260450-68262189	GM12878	blood:	n/a	n/a
4	NFATC1	chr5:68261608-68262132	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68258016..68260416-chr5:68261824..68264961,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249335	TF binding region
ENSG00000250066	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10056163	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10063661	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10064207	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10068972	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10071585	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10075860	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10078240	0.84[CHB][hapmap]
rs10471766	0.82[CHB][hapmap]
rs10940186	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10940194	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs12515924	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12516903	0.85[AMR][1000 genomes]
rs164802	0.82[CHB][hapmap]
rs2076823	0.82[CHB][hapmap]
rs3923114	0.84[CHB][hapmap]
rs4976074	0.84[CHB][hapmap]
rs4976075	0.84[CHB][hapmap]
rs4976178	0.84[CHB][hapmap]
rs58355514	0.94[EUR][1000 genomes]
rs62354488	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62354490	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6414814	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6414815	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6888622	0.81[EUR][1000 genomes]
rs7444785	0.84[CHB][hapmap]
rs7733467	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9291937	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9800367	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830332	chr5:68238288-68282681	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3421637	chr5:68258596-68263994	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3334736	chr5:68259096-68263094	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3345357	chr5:68259296-68263394	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3435534	chr5:68259296-68263394	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3443872	chr5:68260446-68262944	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv9126	chr5:68260570-68262143	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3414489	chr5:68261361-68262120	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68246200-68262200	Weak transcription	Esophagus	oesophagus
2	chr5:68259200-68262200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:68261400-68262400	Weak transcription	Fetal Brain Male	brain
4	chr5:68262000-68262600	Enhancers	Fetal Muscle Trunk	muscle

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