Variant report

Variant	rs9849533
Chromosome Location	chr3:141573572-141573573
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13066028	0.81[CHB][hapmap]
rs16851872	0.81[CHB][hapmap]
rs73228303	0.80[EUR][1000 genomes]
rs9821414	0.80[EUR][1000 genomes]
rs9832234	0.87[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv513080	chr3:141571987-141573763	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv511222	chr3:141572043-141573761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv591897	chr3:141572043-141573761	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1825034	chr3:141572187-141573761	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv591900	chr3:141572187-141573761	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv33727	chr3:141572191-141573760	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9849533	TFDP2	cis	parietal	SCAN
rs9849533	ATR	cis	cerebellum	SCAN
rs9849533	PAQR9	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141565000-141578000	Weak transcription	Fetal Intestine Small	intestine
2	chr3:141567600-141574600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:141568600-141579600	Weak transcription	Fetal Thymus	thymus
4	chr3:141570800-141578600	Weak transcription	Left Ventricle	heart
5	chr3:141571800-141573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:141572600-141578600	Weak transcription	K562	blood
7	chr3:141572800-141573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:141572800-141578000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:141573000-141574000	Weak transcription	Lung	lung
10	chr3:141573000-141574400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:141573000-141579000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:141573000-141579600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:141573000-141582000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:141573400-141574200	Enhancers	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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