Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103139301..103141097-chr7:103143967..103145942,2	MCF-7	breast:
2	chr7:103138361..103141055-chr7:103143694..103145615,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10233848	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1978198	0.83[ASN][1000 genomes]
rs1978199	0.83[ASN][1000 genomes]
rs2041006	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2190417	0.82[ASN][1000 genomes]
rs2190418	0.83[ASN][1000 genomes]
rs2528856	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2528859	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2528869	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2528871	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2528876	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2711846	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2711851	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2711881	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2906643	0.89[ASN][1000 genomes]
rs2965087	0.82[ASN][1000 genomes]
rs2965098	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808043	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808050	0.83[ASN][1000 genomes]
rs3808051	0.83[ASN][1000 genomes]
rs4727570	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944123	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7808296	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7808699	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv888923	chr7:103143117-103199719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103130800-103155000	Weak transcription	Brain Substantia Nigra	brain
2	chr7:103130800-103163600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:103137400-103164400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:103143600-103153200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:103144200-103153000	Weak transcription	HepG2	liver
6	chr7:103145000-103145400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:103145000-103145400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:103145000-103145600	Flanking Active TSS	K562	blood
9	chr7:103145000-103145800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:103145200-103145400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:103145200-103145400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:103145200-103145600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:103145200-103145800	Enhancers	Stomach Mucosa	stomach

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