Variant report

Variant	rs17051235
Chromosome Location	chr4:121649914-121649915
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10518378	0.86[CHB][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17346897	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs843573	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs843575	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17051235	SYNPO2	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121620800-121654400	Weak transcription	Left Ventricle	heart
2	chr4:121620800-121671400	Weak transcription	Pancreas	Pancrea
3	chr4:121625600-121657600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:121626000-121658200	Weak transcription	Aorta	Aorta
5	chr4:121630000-121671400	Weak transcription	Ovary	ovary
6	chr4:121641200-121670400	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:121641400-121669600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:121641600-121652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:121642800-121670600	Weak transcription	Fetal Stomach	stomach
10	chr4:121644200-121658200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:121644400-121653000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:121644400-121654400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:121645800-121662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:121647200-121652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:121647200-121652200	Weak transcription	Psoas Muscle	Psoas
16	chr4:121647200-121652600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:121647200-121671400	Weak transcription	Fetal Lung	lung
18	chr4:121647400-121652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:121647400-121670600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:121648000-121652000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:121648000-121652600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:121648000-121652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:121648200-121671600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:121648200-121671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:121648400-121660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:121648400-121670600	Weak transcription	Adipose Nuclei	Adipose
27	chr4:121648800-121650800	Weak transcription	Fetal Heart	heart
28	chr4:121649600-121670800	Weak transcription	Fetal Intestine Large	intestine
29	chr4:121649800-121650200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:121649800-121650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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