Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:74077294..74080205-chr2:74346163..74349130,2	K562	blood:
2	chr2:74347130..74350614-chr2:74373490..74375151,4	K562	blood:
3	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:
4	chr2:74054992..74057413-chr2:74347412..74349314,2	K562	blood:
5	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
6	chr2:74335555..74337935-chr2:74348747..74350804,2	MCF-7	breast:
7	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
8	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
9	chr2:74347518..74349564-chr2:74361288..74362886,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-3	chr2:74345408-74349576	NONHSAT071660
2	lnc-AC073263.1-3	chr2:74347807-74349577	NONHSAT071661

No data

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1667613	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667618	0.86[EUR][1000 genomes]
rs1667619	0.89[EUR][1000 genomes]
rs1723289	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3099824	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4271791	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6715731	0.84[EUR][1000 genomes]
rs828842	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828844	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828866	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs828879	0.88[ASN][1000 genomes]
rs828881	0.83[ASN][1000 genomes]
rs828899	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs828900	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs1667614	FNBP1P1	cis	Skin Sun Exposed Lower leg	GTEx
rs1667614	FNBP1P1	cis	Esophagus Muscularis	GTEx
rs1667614	FNBP1P1	cis	Artery Tibial	GTEx
rs1667614	FNBP1P1	cis	Thyroid	GTEx
rs1667614	FNBP1P1	cis	Heart Left Ventricle	GTEx
rs1667614	FNBP1P1	cis	Adipose Subcutaneous	GTEx
rs1667614	MGC10955	cis	Thyroid	GTEx
rs1667614	FNBP1P1	cis	Esophagus Mucosa	GTEx
rs1667614	FNBP1P1	cis	Artery Aorta	GTEx
rs1667614	FNBP1P1	cis	Muscle Skeletal	GTEx
rs1667614	FNBP1P1	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74347800-74349000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:74347800-74349000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr2:74347800-74349400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr2:74348000-74357400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:74348200-74350000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:74348200-74350200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:74348200-74355000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:74348200-74360400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:74348600-74361800	Weak transcription	Hela-S3	cervix
11	chr2:74348800-74360400	Weak transcription	Primary T cells from cord blood	blood

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