Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:103157236..103158766-chr7:103162513..103164623,2	MCF-7	breast:
2	chr7:103162513..103164108-chr7:103188694..103190915,2	MCF-7	breast:
3	chr7:103160470..103163343-chr7:103165325..103168288,2	MCF-7	breast:

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

rs_ID	r²[population]
rs1008126	0.95[CEU][hapmap];0.81[TSI][hapmap]
rs10233848	0.86[CHD][hapmap]
rs11761919	0.84[EUR][1000 genomes]
rs12536415	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237626	0.86[CEU][hapmap]
rs2299331	0.83[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2528856	0.81[CHD][hapmap]
rs2528861	0.81[CHB][hapmap]
rs2528862	1.00[CEU][hapmap]
rs2528868	0.80[CEU][hapmap]
rs2535760	0.84[CEU][hapmap]
rs2711838	0.86[CEU][hapmap]
rs2711846	0.84[CHD][hapmap]
rs2711853	0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2711881	0.86[CHD][hapmap]
rs2906634	0.82[CEU][hapmap]
rs362709	0.86[CEU][hapmap]
rs362710	0.86[CEU][hapmap]
rs362737	0.86[CEU][hapmap]
rs3808050	0.84[CHD][hapmap]
rs4727570	0.86[CHD][hapmap]

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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv888923	chr7:103143117-103199719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2075040	SLC26A5	cis	cerebellum	SCAN
rs2075040	CUX1	cis	cerebellum	SCAN
rs2075040	ZNF655	cis	parietal	SCAN
rs2075040	PDAP1	cis	parietal	SCAN
rs2075040	ORC5L	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103130800-103163600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:103137400-103164400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:103156400-103163800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:103158000-103198600	Weak transcription	Liver	Liver
5	chr7:103161000-103168000	Weak transcription	HepG2	liver
6	chr7:103161400-103163400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:103162400-103163000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:103162400-103163000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:103162400-103163000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:103162400-103163200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:103162400-103163200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:103162600-103163200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:103162800-103168000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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