Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211874453..211877155-chr1:211877610..211880535,2	MCF-7	breast:
2	chr1:211872225..211875741-chr1:211876150..211878812,3	K562	blood:

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11119794	0.85[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12074002	1.00[YRI][hapmap]
rs2794731	0.88[ASW][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs41275368	0.82[EUR][1000 genomes]
rs60293324	0.82[EUR][1000 genomes]
rs6661565	0.85[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4511185	HHAT	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211872200-211878800	Weak transcription	Right Atrium	heart
2	chr1:211872600-211877000	Weak transcription	Pancreas	Pancrea
3	chr1:211872600-211877200	Weak transcription	Spleen	Spleen
4	chr1:211872600-211878000	Weak transcription	HMEC	breast
5	chr1:211872800-211876800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:211872800-211877000	Weak transcription	Fetal Thymus	thymus
7	chr1:211872800-211884000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:211873000-211875800	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:211873000-211876000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:211873000-211876400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:211873000-211876400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:211873000-211876600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:211873000-211877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:211874400-211876000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:211874400-211876000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:211874800-211875600	Enhancers	K562	blood
17	chr1:211875000-211875600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:211875200-211875600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:211875200-211877000	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:211875400-211876000	Enhancers	NHEK	skin

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