Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:36836454..36838672-chr5:36877246..36879256,2	K562	blood:
2	chr5:36828450..36830361-chr5:36837150..36839773,2	MCF-7	breast:
3	chr5:36835501..36837986-chr5:36868760..36872023,3	MCF-7	breast:

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

rs_ID	r²[population]
rs150501	1.00[AMR][1000 genomes]
rs159435	1.00[AMR][1000 genomes]
rs1669445	0.80[YRI][hapmap];0.80[AFR][1000 genomes]
rs16903458	0.80[AFR][1000 genomes]
rs192668	0.80[AFR][1000 genomes]
rs192669	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2047593	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs289217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs291113	0.92[AFR][1000 genomes]
rs291115	0.95[AFR][1000 genomes]
rs2934797	0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs293755	1.00[AMR][1000 genomes]
rs293756	0.80[YRI][hapmap];0.80[AFR][1000 genomes]
rs293776	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs298969	0.80[AFR][1000 genomes]
rs468906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs531988	1.00[AMR][1000 genomes]
rs60509887	1.00[AMR][1000 genomes]
rs6891775	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750918	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750919	1.00[AMR][1000 genomes]
rs73750920	1.00[AMR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36836400-36838000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:36836400-36844000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:36836600-36838000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:36837000-36838000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:36837200-36838000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:36837600-36838000	Enhancers	Colon Smooth Muscle	Colon
7	chr5:36837800-36839000	Weak transcription	Ovary	ovary
8	chr5:36837800-36839000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:36837800-36841600	Weak transcription	Primary hematopoietic stem cells	blood

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