Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:133470213-133490385	HepG2	liver:	n/a	n/a
2	MBD4	chr3:133483785-133484523	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:133483758-133484474	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:133482335-133484568	HepG2	liver:	n/a	n/a
5	HEY1	chr3:133483777-133484595	HepG2	liver:	n/a	n/a
6	MYBL2	chr3:133483999-133484543	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:133471516-133487597	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:133480882-133484500	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:133479294-133484913	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:133482481-133484475	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:133470633-133487808	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133483093..133485962-chr3:133490216..133491842,2	K562	blood:

Variant related genes	Relation type
TF	TF binding region
ENSG00000091513	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12487258	1.00[LWK][hapmap]
rs12595	0.90[CHB][hapmap]
rs1525889	0.90[CHB][hapmap];0.91[CHD][hapmap]
rs1534165	0.82[CEU][hapmap]
rs1880669	0.80[CHD][hapmap]
rs2293373	1.00[LWK][hapmap]
rs2293374	1.00[LWK][hapmap]
rs2692695	0.81[CHD][hapmap]
rs34805309	0.81[ASN][1000 genomes]
rs3811647	0.90[CHB][hapmap];0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs3811658	0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs4854760	0.90[CHB][hapmap];0.91[CHD][hapmap]
rs4854761	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs4854762	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs6439439	0.81[ASN][1000 genomes]
rs6762719	0.81[ASN][1000 genomes]
rs73217233	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7638018	0.90[CHB][hapmap];0.91[CHD][hapmap]
rs8177240	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs8177245	0.81[ASN][1000 genomes]
rs8177247	0.81[ASN][1000 genomes]
rs8177248	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs8177252	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs8177253	0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs8177256	0.81[ASN][1000 genomes]
rs8177259	0.81[ASN][1000 genomes]
rs8177260	0.81[ASN][1000 genomes]
rs8177261	0.81[ASN][1000 genomes]
rs8177262	0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs8177271	0.84[ASN][1000 genomes]
rs8177272	0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs8177297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9843728	0.85[CHB][hapmap];0.88[CHD][hapmap]

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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1358024	EPHB1	cis	parietal	SCAN
rs1358024	SRPRB	Cis_1M	lymphoblastoid	RTeQTL
rs1358024	SRPRB	cis	parietal	SCAN
rs1358024	RAB6B	cis	parietal	SCAN
rs1358024	BPESC1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133475000-133487000	Weak transcription	Fetal Brain Male	brain
2	chr3:133477000-133490400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:133480400-133486000	Genic enhancers	Brain Substantia Nigra	brain
4	chr3:133480800-133485200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:133480800-133490000	Genic enhancers	HepG2	liver
6	chr3:133482400-133485200	Genic enhancers	Brain Hippocampus Middle	brain
7	chr3:133482400-133485600	Genic enhancers	Brain Cingulate Gyrus	brain
8	chr3:133482600-133484200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:133482600-133484400	Genic enhancers	Liver	Liver
10	chr3:133482600-133484400	Enhancers	Fetal Lung	lung
11	chr3:133482600-133484600	Enhancers	Fetal Muscle Leg	muscle
12	chr3:133482600-133485400	Genic enhancers	Brain Inferior Temporal Lobe	brain
13	chr3:133482800-133484200	Genic enhancers	Brain Angular Gyrus	brain
14	chr3:133483000-133490600	Weak transcription	Left Ventricle	heart
15	chr3:133483000-133498000	Weak transcription	Esophagus	oesophagus
16	chr3:133483200-133484200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:133483200-133491200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:133483600-133487600	Weak transcription	Brain Germinal Matrix	brain
19	chr3:133483600-133491400	Strong transcription	Brain Anterior Caudate	brain
20	chr3:133483800-133489800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:133484000-133484200	Enhancers	Adipose Nuclei	Adipose

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