Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30923881..30925403-chr13:30927155..30930021,2	K562	blood:
2	chr13:30921585..30925403-chr13:30932567..30935166,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1275179	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275180	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1275181	0.85[EUR][1000 genomes]
rs1621497	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1754937	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17589894	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs200507	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs200508	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs200509	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs202103	0.84[ASN][1000 genomes]
rs202108	0.84[ASN][1000 genomes]
rs2077011	0.80[EUR][1000 genomes]
rs2149852	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149853	0.86[EUR][1000 genomes]
rs2183284	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2185009	0.84[EUR][1000 genomes]
rs2388536	0.86[EUR][1000 genomes]
rs55825913	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs595756	0.84[ASN][1000 genomes]
rs657160	0.84[ASN][1000 genomes]
rs7997259	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9285072	0.80[EUR][1000 genomes]
rs9578163	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9579556	0.80[EUR][1000 genomes]
rs9579558	0.82[AMR][1000 genomes];0.90[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	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv455853	chr13:30911531-30951514	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv561394	chr13:30911531-30951514	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30917000-30926800	Weak transcription	Aorta	Aorta
2	chr13:30920600-30929400	Weak transcription	Spleen	Spleen
3	chr13:30921400-30925400	Weak transcription	Thymus	Thymus
4	chr13:30921400-30927200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:30921400-30928600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:30921600-30924800	Strong transcription	Fetal Thymus	thymus
7	chr13:30922000-30926000	Weak transcription	Primary B cells from cord blood	blood
8	chr13:30922200-30926000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:30922200-30928800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:30922200-30937800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:30922400-30926400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr13:30922800-30925800	Weak transcription	Dnd41	blood
13	chr13:30922800-30926800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:30922800-30928400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr13:30923200-30927200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:30924200-30924600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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