Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94548149..94550772-chr1:94556316..94558558,2	K562	blood:

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17111014	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789419	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682366	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958486	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871558	chr1:94544276-94576968	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv870555	chr1:94545160-94577744	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94536400-94556400	Weak transcription	Right Atrium	heart
2	chr1:94541600-94550400	Weak transcription	Spleen	Spleen
3	chr1:94545800-94554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94545800-94557600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:94546000-94550000	Weak transcription	Fetal Kidney	kidney
6	chr1:94546800-94550600	Enhancers	Fetal Thymus	thymus
7	chr1:94548400-94550400	Weak transcription	NHEK	skin
8	chr1:94548600-94550600	Enhancers	Thymus	Thymus
9	chr1:94548600-94550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:94549000-94550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:94549000-94550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:94549200-94550200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:94549200-94550200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:94549200-94550400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:94549400-94550000	Enhancers	Primary T cells from cord blood	blood
16	chr1:94549400-94550000	Enhancers	Fetal Muscle Leg	muscle
17	chr1:94549400-94550600	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:94549600-94550400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:94549800-94551200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:94549800-94552200	Weak transcription	Dnd41	blood

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