Variant report

Variant	rs2602481
Chromosome Location	chr11:77014395-77014396
allele	C/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	EP300	chr11:77013667-77014496	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:77013216..77015295-chr11:77050036..77051707,2	MCF-7	breast:
2	chr11:77011319..77013837-chr11:77014195..77016713,2	K562	blood:
3	chr11:76974672..76976912-chr11:77012881..77014852,2	K562	blood:

Variant related genes	Relation type
GDPD4	TF binding region
ENSG00000178795	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1037452	0.82[AMR][1000 genomes]
rs10899366	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs10899367	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs10899373	0.85[AMR][1000 genomes]
rs10899377	0.82[AMR][1000 genomes]
rs11237190	0.82[AMR][1000 genomes]
rs11237200	0.89[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs11820118	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes]
rs11823572	0.81[ASN][1000 genomes]
rs11828786	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs12223138	0.89[AMR][1000 genomes]
rs12420360	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1453341	0.82[AMR][1000 genomes]
rs17135670	0.82[AMR][1000 genomes]
rs2100393	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2154754	0.89[JPT][hapmap]
rs2156862	0.86[AMR][1000 genomes]
rs2156863	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs2282576	0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs2467481	0.89[AMR][1000 genomes]
rs2602461	0.82[AMR][1000 genomes]
rs2602471	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs2602473	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2602474	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs2602475	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes]
rs2602480	0.95[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs2602482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602484	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2725829	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs2729749	0.89[AMR][1000 genomes]
rs2729750	0.85[AMR][1000 genomes]
rs2729752	0.89[AMR][1000 genomes]
rs2729756	0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes]
rs2729758	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs2729763	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2729772	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.82[ASN][1000 genomes]
rs2729775	0.88[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes]
rs2844327	0.89[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs2844335	0.85[AMR][1000 genomes]
rs2852388	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2852390	0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap]
rs2853085	0.89[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs2853089	1.00[TSI][hapmap]
rs2853091	0.85[AMR][1000 genomes]
rs2853094	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2853095	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs2853098	0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs2888377	0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes]
rs34375485	0.83[ASN][1000 genomes]
rs3740769	0.87[ASW][hapmap];0.82[MKK][hapmap]
rs4944151	0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs4944159	0.86[AMR][1000 genomes]
rs4944160	0.82[AMR][1000 genomes]
rs7105662	0.89[AMR][1000 genomes]
rs7125798	0.87[ASW][hapmap]
rs724369	0.89[AMR][1000 genomes]
rs733358	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs745458	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs876319	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs896841	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs947810	0.89[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap]
rs948959	1.00[ASW][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs9634030	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap]

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	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77013600-77014600	Enhancers	HepG2	liver
2	chr11:77013800-77015200	Enhancers	HUES64 Cell Line	embryonic stem cell

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