Variant report

Variant	rs2214351
Chromosome Location	chr7:86741039-86741040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86740834..86746276-chr7:86753431..86758713,6	K562	blood:
2	chr7:86740986..86743759-chr7:86781021..86782805,2	K562	blood:

Variant related genes	Relation type
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10231806	0.89[AMR][1000 genomes]
rs10270331	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10480550	0.99[ASN][1000 genomes]
rs10480551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480552	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487071	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975476	0.87[GIH][hapmap];0.85[JPT][hapmap]
rs13237269	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13245768	0.81[YRI][hapmap];0.95[AMR][1000 genomes]
rs17698411	0.85[ASN][1000 genomes]
rs17766011	0.85[ASN][1000 genomes]
rs1859122	0.93[GIH][hapmap];0.85[JPT][hapmap]
rs1859125	0.84[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1859126	0.83[ASN][1000 genomes]
rs1859127	0.83[ASN][1000 genomes]
rs1859128	0.82[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1981536	0.86[ASN][1000 genomes]
rs2106951	0.95[MEX][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes]
rs2106952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106954	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2158156	0.84[JPT][hapmap]
rs2373387	0.91[CHD][hapmap]
rs2373389	0.84[ASN][1000 genomes]
rs4727144	0.85[JPT][hapmap]
rs56327053	0.85[ASN][1000 genomes]
rs56981276	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6465092	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6958141	0.87[GIH][hapmap];0.85[JPT][hapmap]
rs6958626	0.87[ASW][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6958797	0.84[ASN][1000 genomes]
rs6959152	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs720775	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs739711	0.87[ASN][1000 genomes]
rs739712	0.87[ASN][1000 genomes]
rs744136	0.86[ASN][1000 genomes]
rs7458957	0.99[ASN][1000 genomes]
rs7782008	0.83[ASN][1000 genomes]
rs875777	0.92[ASN][1000 genomes]
rs886318	0.87[ASW][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9886109	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1028503	chr7:86684514-86778047	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1033834	chr7:86691235-86770796	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539002	chr7:86691235-86770796	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023137	chr7:86725145-86767689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86739800-86742000	Enhancers	K562	blood
2	chr7:86740200-86742400	Weak transcription	Psoas Muscle	Psoas
3	chr7:86740800-86742400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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