Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78104943..78107414-chr7:78113676..78115865,2	K562	blood:

Variant related genes	Relation type
ENSG00000226230	Chromatin interaction

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

rs_ID	r²[population]
rs10235821	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10238963	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs10241491	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10279188	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10485896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11763781	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11764471	0.88[EUR][1000 genomes]
rs11975402	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12155286	0.80[CEU][hapmap];0.88[AMR][1000 genomes]
rs12705477	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12705478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12705483	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13224634	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13237945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17435216	0.80[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34174742	0.84[EUR][1000 genomes]
rs71573385	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71573386	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791806	0.85[EUR][1000 genomes]
rs7794836	0.84[EUR][1000 genomes]
rs7807844	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78099800-78106200	Weak transcription	Brain Angular Gyrus	brain
2	chr7:78101800-78105600	Enhancers	Brain Anterior Caudate	brain
3	chr7:78102200-78108200	Weak transcription	Ovary	ovary
4	chr7:78102600-78106400	Weak transcription	HSMMtube	muscle
5	chr7:78103000-78117600	Weak transcription	Fetal Brain Female	brain
6	chr7:78103200-78105800	Weak transcription	HSMM	muscle
7	chr7:78103200-78106000	Weak transcription	Brain Substantia Nigra	brain
8	chr7:78103400-78105400	Weak transcription	Osteobl	bone
9	chr7:78103400-78108600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:78103400-78108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:78103600-78105400	Enhancers	Fetal Heart	heart
12	chr7:78103800-78115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:78104400-78105600	Enhancers	Brain Hippocampus Middle	brain
14	chr7:78104400-78106600	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:78104400-78116800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:78105000-78106600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:78105200-78105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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