Variant report

Variant	rs73141418
Chromosome Location	chr7:80802768-80802769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:80802736-80803840	A549	lung:	n/a	chr7:80803463-80803473
2	TCF12	chr7:80802699-80803973	A549	lung:	n/a	n/a
3	GATA3	chr7:80802730-80803868	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80546517..80551479-chr7:80801945..80805775,5	MCF-7	breast:
2	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237896	TF binding region
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10236945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12669751	1.00[EUR][1000 genomes]
rs12672157	1.00[EUR][1000 genomes]
rs12673730	1.00[EUR][1000 genomes]
rs16885321	1.00[AMR][1000 genomes]
rs17154631	1.00[AMR][1000 genomes]
rs1983504	1.00[AMR][1000 genomes]
rs1983505	1.00[AMR][1000 genomes]
rs28844431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35411400	1.00[EUR][1000 genomes]
rs56106210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56118406	1.00[EUR][1000 genomes]
rs56170251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56768210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56914981	1.00[AMR][1000 genomes]
rs57142814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58630650	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59980342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60118096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60727910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61698263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73134411	1.00[EUR][1000 genomes]
rs73134413	1.00[EUR][1000 genomes]
rs73136532	1.00[EUR][1000 genomes]
rs73136536	1.00[EUR][1000 genomes]
rs73136546	1.00[EUR][1000 genomes]
rs73136555	1.00[EUR][1000 genomes]
rs73136559	1.00[EUR][1000 genomes]
rs73136566	1.00[EUR][1000 genomes]
rs73136569	1.00[EUR][1000 genomes]
rs73136575	1.00[EUR][1000 genomes]
rs73136579	1.00[EUR][1000 genomes]
rs73136583	1.00[EUR][1000 genomes]
rs73141414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73141427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147062	1.00[EUR][1000 genomes]
rs73147064	1.00[EUR][1000 genomes]
rs73147071	1.00[EUR][1000 genomes]
rs73147085	1.00[EUR][1000 genomes]
rs73147100	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73149007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73149331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73149364	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73149486	1.00[EUR][1000 genomes]
rs73149488	1.00[EUR][1000 genomes]
rs73149492	1.00[EUR][1000 genomes]
rs73149498	1.00[EUR][1000 genomes]
rs73151191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73151194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73151225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73151250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151703	1.00[EUR][1000 genomes]
rs73151726	1.00[EUR][1000 genomes]
rs73151734	1.00[EUR][1000 genomes]
rs73151743	1.00[EUR][1000 genomes]
rs73153111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73153114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73153120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73153125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2548274	chr7:80801173-80803042	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3526326	chr7:80801202-80803906	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 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	chr7:80792600-80803000	Weak transcription	K562	blood
2	chr7:80800000-80802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:80800000-80802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:80800000-80802800	Weak transcription	Osteobl	bone
5	chr7:80800000-80803000	Weak transcription	HSMM	muscle
6	chr7:80800200-80802800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:80800200-80802800	Weak transcription	A549	lung
8	chr7:80800200-80802800	Weak transcription	NH-A	brain
9	chr7:80800200-80803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:80800200-80803000	Weak transcription	NHLF	lung
11	chr7:80800200-80804600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:80801600-80802800	Weak transcription	Stomach Mucosa	stomach
13	chr7:80802600-80803000	Enhancers	Hela-S3	cervix

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