Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83584751..83586283-chr15:83589059..83590838,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11259960	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12050725	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12148275	0.84[ASN][1000 genomes]
rs12441675	0.93[ASN][1000 genomes]
rs2061947	0.94[ASN][1000 genomes]
rs2167602	0.83[AMR][1000 genomes]
rs4842928	0.86[AMR][1000 genomes]
rs7182096	0.81[ASN][1000 genomes]
rs8025253	0.82[AMR][1000 genomes]
rs872598	0.98[ASN][1000 genomes]
rs872599	0.81[ASN][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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4842917	HOMER2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83570400-83591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:83581600-83587200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr15:83582600-83592600	Enhancers	Liver	Liver
4	chr15:83583000-83587200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:83583200-83597200	Enhancers	Pancreas	Pancrea
6	chr15:83584400-83586200	Weak transcription	Ovary	ovary
7	chr15:83584800-83586600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr15:83585000-83587400	Enhancers	Gastric	stomach
9	chr15:83585000-83587600	Enhancers	Fetal Muscle Leg	muscle
10	chr15:83585000-83587800	Enhancers	Psoas Muscle	Psoas
11	chr15:83585200-83587200	Enhancers	HepG2	liver
12	chr15:83585200-83587600	Enhancers	Spleen	Spleen
13	chr15:83585200-83587800	Enhancers	Left Ventricle	heart
14	chr15:83585400-83586200	Weak transcription	Right Atrium	heart
15	chr15:83585400-83587600	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:83585600-83587000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:83585600-83599200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:83585800-83586600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:83585800-83587800	Weak transcription	Brain Angular Gyrus	brain
20	chr15:83585800-83600000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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