Variant report

Variant	rs2113997
Chromosome Location	chr4:143417918-143417919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143417636..143419630-chr4:143766878..143768901,2	MCF-7	breast:
2	chr4:143413858..143417605-chr4:143417638..143420686,5	MCF-7	breast:
3	chr4:143392241..143398966-chr4:143412985..143424496,30	MCF-7	breast:
4	chr4:143388381..143398737-chr4:143415738..143428678,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10011782	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10012476	0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10015184	0.82[ASN][1000 genomes]
rs1013397	0.82[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12108640	0.92[EUR][1000 genomes]
rs12642500	0.90[ASN][1000 genomes]
rs12643136	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12644565	0.82[ASN][1000 genomes]
rs12646243	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12649139	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1364917	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1364918	0.82[ASN][1000 genomes]
rs1364926	0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1391099	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs1425531	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs1425533	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1425534	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1425535	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1425536	1.00[CEU][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1425537	1.00[CEU][hapmap];0.84[CHD][hapmap];0.94[EUR][1000 genomes]
rs1425538	0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1489581	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs17016163	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs17016170	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs17016175	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs17016207	0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs17016248	0.85[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs17016304	0.83[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs17016306	1.00[CEU][hapmap];0.96[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1817970	0.84[CEU][hapmap]
rs1834391	0.94[EUR][1000 genomes]
rs2042644	0.94[ASN][1000 genomes]
rs2113996	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2162108	0.90[ASN][1000 genomes]
rs2322705	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2322706	0.87[ASN][1000 genomes]
rs2322795	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2322796	0.88[ASN][1000 genomes]
rs28510314	0.88[ASN][1000 genomes]
rs2874841	0.93[EUR][1000 genomes]
rs2874865	0.94[EUR][1000 genomes]
rs28822497	0.90[EUR][1000 genomes]
rs28823374	0.82[ASN][1000 genomes]
rs28861843	0.88[ASN][1000 genomes]
rs34900920	0.81[ASN][1000 genomes]
rs3844178	0.93[EUR][1000 genomes]
rs3913163	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs4345256	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4975308	0.92[EUR][1000 genomes]
rs57724540	0.91[ASN][1000 genomes]
rs59784151	0.89[ASN][1000 genomes]
rs60924405	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6823362	0.89[ASN][1000 genomes]
rs713071	0.93[EUR][1000 genomes]
rs7668133	0.87[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7672965	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7699408	0.88[ASN][1000 genomes]
rs9308152	0.82[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs931637	0.81[JPT][hapmap]
rs976564	0.94[EUR][1000 genomes]
rs9986090	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs9998089	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2762467	chr4:143412932-143420262	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv980156	chr4:143416059-143418605	Enhancers Weak transcription	Chromatin interactive region	1 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	chr4:143401800-143418600	Weak transcription	Fetal Heart	heart
2	chr4:143415400-143419000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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