Variant report

Variant	rs1880669
Chromosome Location	chr3:133483696-133483697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

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	POLR2A	chr3:133482335-133484568	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:133471516-133487597	HepG2	liver:	n/a	n/a
4	HEY1	chr3:133482177-133483767	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:133480882-133484500	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:133479294-133484913	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:133482481-133484475	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:133470633-133487808	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133483093..133485962-chr3:133490216..133491842,2	K562	blood:
2	chr3:133482007..133483955-chr3:133484713..133486913,2	MCF-7	breast:
3	chr3:133475218..133478981-chr3:133481312..133484055,3	K562	blood:

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1358021	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1358024	0.80[CHD][hapmap]
rs1405022	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464937	0.81[CEU][hapmap]
rs1525889	0.89[CHD][hapmap]
rs2692695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2715634	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2718798	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811647	0.88[CHD][hapmap]
rs3811658	0.86[CHD][hapmap]
rs4854760	0.89[CHD][hapmap]
rs4854761	0.86[CHD][hapmap]
rs4854762	0.86[CHD][hapmap]
rs6794361	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7638018	0.89[CHD][hapmap]
rs8177248	0.86[CHD][hapmap]
rs8177253	0.86[CHD][hapmap]
rs8177262	0.86[CHD][hapmap]
rs8177272	0.86[CHD][hapmap]
rs9843728	0.86[CHD][hapmap]
rs9853615	0.81[CEU][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1880669	SRPRB	cis	parietal	SCAN

Chromatin state (count:25 , 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	chr3:133480000-133483800	Weak transcription	Adipose Nuclei	Adipose
4	chr3:133480400-133486000	Genic enhancers	Brain Substantia Nigra	brain
5	chr3:133480800-133485200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:133480800-133490000	Genic enhancers	HepG2	liver
7	chr3:133482400-133485200	Genic enhancers	Brain Hippocampus Middle	brain
8	chr3:133482400-133485600	Genic enhancers	Brain Cingulate Gyrus	brain
9	chr3:133482600-133484000	Enhancers	HSMMtube	muscle
10	chr3:133482600-133484200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:133482600-133484400	Genic enhancers	Liver	Liver
12	chr3:133482600-133484400	Enhancers	Fetal Lung	lung
13	chr3:133482600-133484600	Enhancers	Fetal Muscle Leg	muscle
14	chr3:133482600-133485400	Genic enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:133482800-133483800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:133482800-133484000	Enhancers	Fetal Stomach	stomach
17	chr3:133482800-133484200	Genic enhancers	Brain Angular Gyrus	brain
18	chr3:133483000-133483800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:133483000-133484000	Enhancers	HSMM	muscle
20	chr3:133483000-133490600	Weak transcription	Left Ventricle	heart
21	chr3:133483000-133498000	Weak transcription	Esophagus	oesophagus
22	chr3:133483200-133484200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:133483200-133491200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:133483600-133487600	Weak transcription	Brain Germinal Matrix	brain
25	chr3:133483600-133491400	Strong transcription	Brain Anterior Caudate	brain

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