Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:40227190..40230655-chr21:40232406..40235410,3	K562	blood:
2	chr21:40229025..40231300-chr21:40255922..40258531,2	K562	blood:
3	chr21:40227996..40231150-chr21:40232050..40235725,3	MCF-7	breast:
4	chr21:40176981..40179168-chr21:40228502..40230846,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETS2-2	chr21:40229700-40230764	XLOC_013939
2	lnc-ETS2-2	chr21:40230001-40230764	XLOC_013939
3	lnc-ETS2-2	chr21:40230001-40230764	XLOC_013939
4	lnc-ETS2-2	chr21:40230001-40230749	NONHSAT082126
5	lnc-ETS2-2	chr21:40230001-40230786	NR_109926

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1009123	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11700716	0.82[EUR][1000 genomes]
rs13047489	0.82[EUR][1000 genomes]
rs13047716	0.82[EUR][1000 genomes]
rs13048664	0.82[EUR][1000 genomes]
rs1534827	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1882734	0.85[EUR][1000 genomes]
rs1893203	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1893204	0.90[EUR][1000 genomes]
rs2015748	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2836697	0.82[EUR][1000 genomes]
rs2836700	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2836703	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs455426	0.94[GIH][hapmap]
rs456574	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs464366	0.85[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs464476	0.85[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs465657	1.00[JPT][hapmap]
rs468057	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55938987	0.90[EUR][1000 genomes]
rs7276433	0.90[EUR][1000 genomes]
rs7281107	0.90[EUR][1000 genomes]
rs7281192	0.90[EUR][1000 genomes]
rs7281242	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7281259	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7281698	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs877372	0.82[EUR][1000 genomes]
rs909103	0.85[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40225800-40234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40226000-40232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:40226000-40233600	Weak transcription	Spleen	Spleen
4	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40226200-40232800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:40226400-40230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:40226400-40231800	Weak transcription	NHEK	skin
8	chr21:40228200-40230400	Enhancers	Fetal Heart	heart
9	chr21:40228200-40231000	Enhancers	Fetal Muscle Trunk	muscle
10	chr21:40228400-40230400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr21:40228400-40231200	Enhancers	Fetal Muscle Leg	muscle
12	chr21:40228800-40230200	Enhancers	Hela-S3	cervix
13	chr21:40229000-40235000	Enhancers	Fetal Thymus	thymus
14	chr21:40229000-40235000	Enhancers	Dnd41	blood
15	chr21:40229200-40236400	Enhancers	Thymus	Thymus
16	chr21:40229400-40230800	Enhancers	K562	blood
17	chr21:40229400-40232200	Weak transcription	Fetal Lung	lung
18	chr21:40229400-40233000	Weak transcription	Right Atrium	heart
19	chr21:40229600-40230600	Enhancers	HepG2	liver
20	chr21:40229600-40232800	Weak transcription	Right Ventricle	heart
21	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
22	chr21:40229800-40230600	Enhancers	HUVEC	blood vessel

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