Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168887188..168892256-chr1:169072302..169079040,8	MCF-7	breast:
2	chr1:168875687..168879217-chr1:168890314..168893830,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction
ENSG00000237707	Chromatin interaction

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10800396	0.95[ASN][1000 genomes]
rs10919019	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12096067	0.82[ASN][1000 genomes]
rs12128029	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407478	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407481	0.85[ASN][1000 genomes]
rs2900884	0.89[ASN][1000 genomes]
rs4656169	0.90[ASN][1000 genomes]
rs4656625	0.97[ASN][1000 genomes]
rs4656626	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656627	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4656628	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6427160	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6427161	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6692447	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67169143	0.99[ASN][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10737544	POGK	cis	cerebellum	SCAN
rs10737544	XCL1	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168887800-168891800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:168887800-168893400	Enhancers	HepG2	liver
3	chr1:168888000-168891800	Enhancers	Stomach Mucosa	stomach
4	chr1:168889000-168892400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:168889000-168892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:168889200-168891800	Enhancers	Fetal Lung	lung
7	chr1:168889200-168891800	Enhancers	Pancreas	Pancrea
8	chr1:168889200-168891800	Enhancers	Right Atrium	heart
9	chr1:168889400-168891800	Enhancers	Fetal Kidney	kidney
10	chr1:168889400-168892600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:168890400-168891800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:168890400-168893000	Weak transcription	Hela-S3	cervix
13	chr1:168890600-168893600	Enhancers	A549	lung
14	chr1:168890600-168894400	Enhancers	HUVEC	blood vessel
15	chr1:168891200-168891800	Enhancers	Gastric	stomach
16	chr1:168891400-168891800	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:168891400-168891800	Enhancers	Left Ventricle	heart
18	chr1:168891400-168891800	Enhancers	Small Intestine	intestine
19	chr1:168891400-168893400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:168891600-168891800	Enhancers	GM12878-XiMat	blood
21	chr1:168891600-168892600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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