Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94596499..94598702-chr1:94606759..94609677,2	K562	blood:

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

rs_ID	r²[population]
rs12067736	0.80[ASN][1000 genomes]
rs12075780	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12077584	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12077639	0.89[ASN][1000 genomes]
rs12089919	0.85[ASN][1000 genomes]
rs12091344	0.85[ASN][1000 genomes]
rs1411702	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17111161	0.90[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17111205	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17111206	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2150268	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2774920	0.82[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs28796027	0.80[ASN][1000 genomes]
rs3789689	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3789691	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs3789692	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6673184	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6677288	0.95[CHD][hapmap]
rs6682149	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs871661	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv871502	chr1:94579426-94607607	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv871306	chr1:94579426-94609478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11581939	MTF2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94600600-94612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:94606400-94609200	Enhancers	HUVEC	blood vessel
3	chr1:94606600-94607400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:94607000-94608600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94607200-94607400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:94607200-94607400	Enhancers	NHDF-Ad	bronchial
7	chr1:94607200-94607800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:94607200-94608000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:94607200-94608200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:94607200-94608200	Enhancers	NHLF	lung
11	chr1:94607200-94608200	Enhancers	Osteobl	bone
12	chr1:94607200-94608400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:94607200-94608400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:94607200-94608400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:94607200-94608400	Enhancers	HSMM	muscle
16	chr1:94607200-94608400	Enhancers	NH-A	brain
17	chr1:94607200-94608600	Enhancers	HSMMtube	muscle
18	chr1:94607200-94608800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:94607200-94609200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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