Variant report

Variant	rs2992007
Chromosome Location	chr10:27766456-27766457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27764053..27766615-chr10:27791459..27793653,2	MCF-7	breast:
2	chr10:27764701..27767578-chr10:27773110..27774653,2	K562	blood:
3	chr10:27764841..27767820-chr10:27775141..27776833,2	K562	blood:

Variant related genes	Relation type
ENSG00000099246	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10128112	0.90[EUR][1000 genomes]
rs10764696	0.91[EUR][1000 genomes]
rs10764697	0.91[EUR][1000 genomes]
rs10829261	0.91[EUR][1000 genomes]
rs11015783	0.91[ASN][1000 genomes]
rs11015823	0.88[EUR][1000 genomes]
rs11813831	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11814298	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11814433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263006	0.89[EUR][1000 genomes]
rs12413104	0.91[ASN][1000 genomes]
rs12414736	0.91[ASN][1000 genomes]
rs12415979	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12772577	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12777582	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778569	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17681969	0.91[ASN][1000 genomes]
rs17749271	0.91[ASN][1000 genomes]
rs17749397	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020155	0.91[ASN][1000 genomes]
rs2368231	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642274	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34354872	0.91[ASN][1000 genomes]
rs34467586	0.91[ASN][1000 genomes]
rs34773871	0.91[ASN][1000 genomes]
rs34978206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35224308	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35590474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35599449	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35673366	0.91[ASN][1000 genomes]
rs3847381	0.91[ASN][1000 genomes]
rs3904627	0.91[ASN][1000 genomes]
rs4237384	0.89[EUR][1000 genomes]
rs4345873	0.91[EUR][1000 genomes]
rs4514312	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4634991	0.91[EUR][1000 genomes]
rs4749249	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108042	0.91[ASN][1000 genomes]
rs594549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61844844	0.99[EUR][1000 genomes]
rs61844847	0.97[EUR][1000 genomes]
rs625433	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661882	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67199203	0.91[ASN][1000 genomes]
rs68016309	0.91[ASN][1000 genomes]
rs7067807	0.91[ASN][1000 genomes]
rs7069133	0.91[ASN][1000 genomes]
rs7090220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095624	0.91[ASN][1000 genomes]
rs717287	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7475332	0.87[EUR][1000 genomes]
rs765700	0.91[ASN][1000 genomes]
rs9732977	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971075	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv2750890	chr10:27669479-27774501	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 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	chr10:27764000-27767000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:27764000-27768400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:27765200-27766600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:27765200-27766800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:27765200-27771800	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:27765400-27766800	Weak transcription	NHEK	skin
7	chr10:27765400-27767600	Weak transcription	HMEC	breast

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