Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126427196..126429754-chr7:126431712..126435448,3	K562	blood:
2	7:126085913-126088095..7:126429477-126435211	GM12878	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11972390	1.00[AMR][1000 genomes]
rs11973715	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs11978035	1.00[YRI][hapmap]
rs11978791	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981611	0.86[AFR][1000 genomes]
rs11983548	1.00[YRI][hapmap]
rs11983585	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984090	1.00[YRI][hapmap]
rs55774132	0.97[AFR][1000 genomes]
rs56813278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58042731	1.00[AMR][1000 genomes]
rs59577029	0.84[AFR][1000 genomes]
rs61755404	1.00[AFR][1000 genomes]
rs6948817	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73720780	1.00[AFR][1000 genomes]
rs73720781	1.00[AFR][1000 genomes]
rs73720785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73720798	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723512	1.00[AMR][1000 genomes]
rs7778713	1.00[YRI][hapmap];1.00[AFR][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126430800-126432600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:126430800-126432600	Enhancers	Brain Anterior Caudate	brain
3	chr7:126430800-126433400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr7:126430800-126433800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:126431000-126433600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:126431400-126432400	Enhancers	Brain Hippocampus Middle	brain
7	chr7:126431400-126432400	Enhancers	Brain Substantia Nigra	brain
8	chr7:126431400-126433800	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:126431800-126433200	Enhancers	Brain Angular Gyrus	brain
10	chr7:126432000-126433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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