Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103767414..103770049-chr4:103783423..103785065,2	MCF-7	breast:
2	chr4:103748010..103751949-chr4:103768515..103772820,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246560	Chromatin interaction
ENSG00000109332	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10006474	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10516495	0.91[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs10516496	0.91[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs11946020	0.95[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs13150953	0.91[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs223317	1.00[CEU][hapmap]
rs223331	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223374	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs223401	0.87[CEU][hapmap]
rs223413	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs223471	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs223489	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs223490	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2866416	0.96[CEU][hapmap]
rs34475639	0.95[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs4699048	0.87[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap]
rs6816370	0.96[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs6843738	0.95[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs7665026	0.95[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]

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	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs223361	LRRC37A15P	cis	Thyroid	GTEx
rs223361	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs223361	MANBA	cis	multi-tissue	Pritchard
rs223361	BDH2	Cis_1M	lymphoblastoid	RTeQTL
rs223361	KRT8P46	cis	lung	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103750000-103770600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:103750600-103770400	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:103750600-103771200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:103750800-103771400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:103750800-103788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:103751600-103780200	Weak transcription	Dnd41	blood
7	chr4:103753600-103776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:103753800-103769600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:103754000-103770800	Weak transcription	K562	blood
10	chr4:103758200-103771200	Weak transcription	A549	lung
11	chr4:103760200-103772200	Weak transcription	Primary T cells from cord blood	blood
12	chr4:103761600-103779800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:103763400-103771400	Weak transcription	Fetal Stomach	stomach
14	chr4:103765000-103783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:103765200-103780000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:103765400-103788800	Weak transcription	Left Ventricle	heart
17	chr4:103768600-103781800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:103769200-103772000	Weak transcription	Fetal Thymus	thymus

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