Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126441098-126445427..7:127009457-127018926	GM12878	blood:
2	7:126441098-126445427..7:126746034-126750148	H1-hESC	embryonic stem cell:	embryo
3	7:126441098-126445427..7:126880504-126885902	H1-hESC	embryonic stem cell:	embryo
4	7:126441098-126445427..7:126756671-126761022	H1-hESC	embryonic stem cell:	embryo
5	7:126441098-126445427..7:127233104-127239235	H1-hESC	embryonic stem cell:	embryo
6	7:126085913-126088095..7:126441098-126445427	GM12878	blood:
7	7:126441098-126445427..7:126890676-126899918	GM12878	blood:
8	7:126441098-126445427..7:126733290-126737485	H1-hESC	embryonic stem cell:	embryo

No data

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11972390	1.00[AMR][1000 genomes]
rs11973715	0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978035	1.00[YRI][hapmap]
rs11981611	0.89[AFR][1000 genomes]
rs11983548	1.00[YRI][hapmap]
rs11983585	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984090	1.00[YRI][hapmap]
rs55774132	0.89[AFR][1000 genomes]
rs56813278	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58042731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61755404	0.92[AFR][1000 genomes]
rs6948817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73720780	0.92[AFR][1000 genomes]
rs73720781	0.92[AFR][1000 genomes]
rs73720785	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73720798	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723512	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7778713	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7796521	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809596	0.92[YRI][hapmap]

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	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032612	chr7:126417533-126456282	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 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	chr7:126443400-126446000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:126443600-126444200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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