Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223431095..223433282-chr1:223435699..223438633,2	MCF-7	breast:
2	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:

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

rs_ID	r²[population]
rs1095170	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1341291	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1356481	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1356482	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17161993	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161994	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17163762	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17163773	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17163774	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1773710	0.93[AFR][1000 genomes]
rs2203763	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2678367	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2795063	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34013846	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34283624	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34782082	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34788475	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35345711	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3820596	0.86[AFR][1000 genomes]
rs4661252	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61837629	0.90[AFR][1000 genomes]
rs61837630	0.87[AFR][1000 genomes]
rs6662301	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs712857	0.89[AFR][1000 genomes]
rs74145795	0.87[AFR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr1:223423800-223439600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:223424200-223438800	Weak transcription	Ovary	ovary
3	chr1:223427400-223442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:223432200-223440200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:223432400-223442200	Weak transcription	Pancreas	Pancrea
6	chr1:223432600-223438800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:223433200-223444600	Weak transcription	Esophagus	oesophagus
8	chr1:223433600-223440400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:223437000-223438800	Enhancers	K562	blood
10	chr1:223437400-223439200	Strong transcription	Primary T cells from cord blood	blood
11	chr1:223438000-223443600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:223438200-223438800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:223438200-223439000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:223438400-223439200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:223438400-223440400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:223438400-223441000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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