Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129188028..129191960-chr7:129192887..129197274,4	K562	blood:

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

rs_ID	r²[population]
rs10257409	0.97[ASN][1000 genomes]
rs1125056	0.99[ASN][1000 genomes]
rs11765308	0.93[ASN][1000 genomes]
rs11765389	0.93[ASN][1000 genomes]
rs11768713	0.93[ASN][1000 genomes]
rs12154955	1.00[CHB][hapmap]
rs12706898	1.00[CHB][hapmap]
rs13233863	1.00[CHB][hapmap]
rs13235012	0.83[ASN][1000 genomes]
rs13239330	0.87[ASN][1000 genomes]
rs1665111	0.81[ASN][1000 genomes]
rs2121265	0.86[ASN][1000 genomes]
rs2598178	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896417	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34780485	0.83[ASN][1000 genomes]
rs4554407	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56052358	0.92[ASN][1000 genomes]
rs56178414	0.95[ASN][1000 genomes]
rs612972	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129186400-129201600	Weak transcription	Right Atrium	heart
2	chr7:129190800-129195000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:129191200-129193800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:129192800-129201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:129193000-129194000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:129193000-129198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:129193000-129200400	Weak transcription	Gastric	stomach

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