Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40839610..40841601-chr7:40845220..40847169,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1006376	0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes]
rs10233069	0.80[CHB][hapmap]
rs10268219	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1029620	0.89[EUR][1000 genomes]
rs10951639	0.92[CEU][hapmap];0.84[CHB][hapmap];0.88[EUR][1000 genomes]
rs1203569	0.92[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1203570	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1203575	0.87[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12701836	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs12701837	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1733483	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17770991	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1974547	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2108375	0.80[CHB][hapmap]
rs2302025	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2329877	0.96[CEU][hapmap];0.83[CHB][hapmap]
rs35628600	0.89[EUR][1000 genomes]
rs35995194	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36200804	0.86[EUR][1000 genomes]
rs723838	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs763714	0.92[CEU][hapmap];0.86[EUR][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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830973	chr7:40816419-40851594	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1203573	INHBA	cis	Nerve Tibial	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40832800-40841800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:40834000-40844200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:40835400-40847800	Weak transcription	Aorta	Aorta
4	chr7:40835800-40844400	Weak transcription	HSMM	muscle
5	chr7:40839800-40844600	Weak transcription	Fetal Stomach	stomach
6	chr7:40840000-40844400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:40840400-40844200	Enhancers	NHDF-Ad	bronchial
8	chr7:40840600-40841800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:40840600-40842000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:40840600-40842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:40840600-40842400	Enhancers	Osteobl	bone
12	chr7:40840800-40844400	Weak transcription	Brain Substantia Nigra	brain
13	chr7:40841000-40841800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:40841000-40844400	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:40841000-40844600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:40841000-40844600	Weak transcription	HSMMtube	muscle
17	chr7:40841200-40842200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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