Variant report

Variant	rs7372683
Chromosome Location	chr3:60966386-60966387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11130800	0.80[JPT][hapmap]
rs11130802	0.90[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];0.88[YRI][hapmap]
rs11130803	0.89[CEU][hapmap]
rs11130804	0.95[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs11713112	0.81[JPT][hapmap]
rs12493259	0.82[JPT][hapmap]
rs1562520	0.82[JPT][hapmap]
rs3952441	0.82[JPT][hapmap]
rs4974254	0.82[JPT][hapmap]
rs6765479	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6792544	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7371876	0.95[CEU][hapmap]
rs7426804	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9311789	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs9819076	0.81[JPT][hapmap]
rs9851616	0.81[JPT][hapmap]
rs9852553	0.81[JPT][hapmap]
rs9857057	0.81[JPT][hapmap]
rs9876711	0.81[JPT][hapmap]
rs9879276	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap]
rs9990051	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534038	chr3:60781917-60993082	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757872	chr3:60781943-61019003	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2752012	chr3:60952040-61016039	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv590409	chr3:60952040-61040860	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv876864	chr3:60952040-61103609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv915904	chr3:60952040-61125194	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1012510	chr3:60952040-61131709	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv536578	chr3:60952040-61131709	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7372683	C3orf14	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60964200-60967000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr3:60964200-60979400	Weak transcription	Psoas Muscle	Psoas
3	chr3:60964400-60967000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:60964600-60966800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:60964600-60966800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:60964800-60966400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:60964800-60966800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:60964800-60967000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:60964800-60967000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:60965000-60966400	Enhancers	NHDF-Ad	bronchial
11	chr3:60965000-60966800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr3:60965000-60967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:60965200-60966400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:60965200-60966800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:60965200-60967000	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:60965400-60966800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:60965400-60966800	Enhancers	Brain Anterior Caudate	brain
18	chr3:60965600-60966400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:60965600-60966400	Enhancers	Fetal Kidney	kidney
20	chr3:60965600-60966600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:60965600-60966600	Weak transcription	Ovary	ovary
22	chr3:60965600-60967000	Enhancers	Monocytes-CD14+_RO01746	blood

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