Variant report

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64812043..64814935-chr14:64975290..64978233,2	K562	blood:
2	chr14:64810311..64815696-chr14:64852502..64857226,7	MCF-7	breast:
3	chr14:64813513..64815077-chr14:64817332..64820042,2	K562	blood:
4	chr14:64813453..64815702-chr14:64970879..64973824,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESR2-2	chr14:64814241-64814329	XLOC_011051
2	lnc-ESR2-3	chr14:64814241-64814329	NONHSAT037330
3	lnc-ESR2-3	chr14:64814245-64814478	NONHSAT037331

No data

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1152589	0.83[MKK][hapmap]
rs1256093	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1256095	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.96[ASN][1000 genomes]
rs1256097	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1256099	0.97[ASN][1000 genomes]
rs1256100	0.98[ASN][1000 genomes]
rs1256101	0.98[ASN][1000 genomes]
rs1256108	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1256109	0.99[ASN][1000 genomes]
rs1256113	0.98[ASN][1000 genomes]
rs12587229	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1262246	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1270057	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12880360	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12886138	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12889097	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12894546	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2987969	0.83[GIH][hapmap]
rs3020445	0.80[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35020344	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs36016358	0.93[ASN][1000 genomes]
rs4243628	0.85[ASN][1000 genomes]
rs7229	0.89[MKK][hapmap]

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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv84862	chr14:64813942-64818537	Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3327200	chr14:64814100-64814332	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1256112	ESR2	Cis_1M	lymphoblastoid	RTeQTL
rs1256112	SYNE2	Cis_1M	lymphoblastoid	RTeQTL
rs1256112	ESR2	cis	Skin Sun Exposed Lower leg	GTEx
rs1256112	KCNH5	cis	parietal	SCAN
rs1256112	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL
rs1256112	SYNE2	cis	multi-tissue	Pritchard
rs1256112	MTHFD1	cis	parietal	SCAN
rs1256112	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64806200-64819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:64807600-64827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:64811200-64814800	Weak transcription	GM12878-XiMat	blood
4	chr14:64813200-64822200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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