Variant report

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103296674..103299385-chr7:103636597..103638114,2	K562	blood:
2	chr17:48784748..48785382-chr7:103297553..103298427,2	MCF-7	breast:
3	chr7:103298261..103300051-chr7:103303865..103306528,3	K562	blood:
4	chr7:103297074..103301566-chr7:103303216..103306956,8	K562	blood:
5	chr7:103297764..103300699-chr7:103309943..103311774,3	K562	blood:
6	chr7:103297558..103299544-chr7:103301065..103303822,2	K562	blood:
7	chr7:103294590..103296926-chr7:103297378..103300214,2	MCF-7	breast:
8	chr7:103290439..103294290-chr7:103295616..103299130,4	K562	blood:
9	chr7:103298022..103299710-chr7:103300574..103302831,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154945	Chromatin interaction

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

rs_ID	r²[population]
rs10487164	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13238300	0.83[AFR][1000 genomes]
rs1860686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240965	0.91[AFR][1000 genomes]
rs2299348	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362628	1.00[ASN][1000 genomes]
rs362631	1.00[ASN][1000 genomes]
rs362672	1.00[ASN][1000 genomes]
rs41276151	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476848	0.87[EUR][1000 genomes]
rs493189	0.87[EUR][1000 genomes]
rs517912	0.87[EUR][1000 genomes]
rs540058	0.87[EUR][1000 genomes]
rs56041591	0.92[ASN][1000 genomes]
rs56384750	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568519	0.87[EUR][1000 genomes]
rs631989	0.87[EUR][1000 genomes]
rs67423770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67823578	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720078	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177965	1.00[ASN][1000 genomes]
rs73177970	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs82878	1.00[ASN][1000 genomes]
rs997447	0.94[EUR][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	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
2	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
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103278800-103300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:103288800-103301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103289000-103300800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:103290000-103300600	Weak transcription	Liver	Liver
5	chr7:103293800-103300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:103297400-103299400	Enhancers	Hela-S3	cervix
7	chr7:103297600-103300200	Enhancers	K562	blood
8	chr7:103298200-103299600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:103298200-103305000	Enhancers	HepG2	liver

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