Variant report

Variant	rs9686862
Chromosome Location	chr5:101920820-101920821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:101917966..101921211-chr5:101923509..101926669,3	K562	blood:
2	chr5:101918211..101920924-chr5:102375515..102377060,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10035507	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10038730	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10041536	0.82[YRI][hapmap]
rs10041969	1.00[JPT][hapmap]
rs10045929	1.00[JPT][hapmap]
rs10051006	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10057940	1.00[ASN][1000 genomes]
rs10059568	1.00[ASN][1000 genomes]
rs10059604	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10060403	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10066065	1.00[ASN][1000 genomes]
rs10069964	1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10070269	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10073195	0.84[AFR][1000 genomes]
rs10073454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074590	0.88[YRI][hapmap]
rs10075530	1.00[JPT][hapmap]
rs10077046	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10078142	0.84[AFR][1000 genomes]
rs10477819	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10479213	1.00[JPT][hapmap]
rs10479237	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515328	0.93[ASN][1000 genomes]
rs10515329	0.93[ASN][1000 genomes]
rs13357560	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13358233	1.00[JPT][hapmap]
rs13361792	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1452063	1.00[JPT][hapmap]
rs1502843	0.93[ASN][1000 genomes]
rs1502850	0.93[ASN][1000 genomes]
rs17150488	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17151033	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17151574	0.93[ASN][1000 genomes]
rs17152198	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910289	0.84[AFR][1000 genomes]
rs1910291	0.84[AFR][1000 genomes]
rs28415625	0.93[ASN][1000 genomes]
rs41389647	1.00[JPT][hapmap]
rs56181501	0.93[ASN][1000 genomes]
rs58139210	0.93[ASN][1000 genomes]
rs6596500	0.93[ASN][1000 genomes]
rs6862833	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6866284	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870113	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6870270	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6876722	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6883528	1.00[JPT][hapmap]
rs6885350	1.00[JPT][hapmap]
rs6885781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885940	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6890447	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898458	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72779996	0.93[ASN][1000 genomes]
rs72779997	0.93[ASN][1000 genomes]
rs7705924	1.00[ASN][1000 genomes]
rs7709217	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7728204	0.93[ASN][1000 genomes]
rs7737678	0.84[AFR][1000 genomes]
rs9327866	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9687561	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv830428	chr5:101797242-101958791	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1033193	chr5:101859229-102420837	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1033405	chr5:101912749-102005038	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101919800-101925200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:101919800-101925600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:101920000-101922200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:101920000-101922200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:101920000-101925800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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