Variant report

Variant	rs4701048
Chromosome Location	chr5:178541941-178541942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10038484	0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10057660	0.92[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10063310	0.92[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10067183	0.92[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10068311	0.92[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10072631	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10479525	0.86[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1049532	0.92[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes]
rs12659833	0.83[ASN][1000 genomes]
rs1562233	0.92[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1562234	0.92[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2161170	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2251105	0.91[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs34320394	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3776810	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3776811	0.83[ASN][1000 genomes]
rs3797590	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797615	0.84[CEU][hapmap]
rs3822591	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701032	0.92[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes]
rs4701035	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4701036	0.92[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4701037	0.92[CEU][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap]
rs4701038	0.92[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4701040	0.92[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4701041	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4701042	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4701043	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4701046	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4701050	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62393088	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6601020	0.84[ASN][1000 genomes]
rs6860046	0.90[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs6864241	0.85[AMR][1000 genomes]
rs6868661	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6877691	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs716782	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7718671	0.83[ASN][1000 genomes]
rs7722105	0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs7722433	0.84[JPT][hapmap]
rs7727747	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7728180	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9286043	0.88[CHD][hapmap];0.82[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	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1026790	chr5:178511268-178687428	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv482352	chr5:178525060-178697496	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv883222	chr5:178540975-178595870	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4701048	DDX41	cis	cerebellum	SCAN
rs4701048	RAB24	cis	parietal	SCAN
rs4701048	C5orf45	cis	parietal	SCAN
rs4701048	DKFZp686E2433	Cis_1M	lymphoblastoid	RTeQTL
rs4701048	DOK3	cis	cerebellum	SCAN
rs4701048	ZNF879	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178527800-178559800	Weak transcription	HSMM	muscle
2	chr5:178538000-178544000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:178538000-178544400	ZNF genes & repeats	Liver	Liver
4	chr5:178538000-178550000	Strong transcription	Osteobl	bone
5	chr5:178538000-178560400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:178538200-178564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:178538400-178542800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:178538400-178544000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr5:178538600-178542800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:178538600-178543600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:178539000-178543000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:178539400-178544400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr5:178539400-178545600	ZNF genes & repeats	Fetal Stomach	stomach
14	chr5:178539600-178542400	ZNF genes & repeats	Spleen	Spleen
15	chr5:178539800-178542800	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr5:178540200-178542600	Strong transcription	HSMMtube	muscle
17	chr5:178540200-178543400	ZNF genes & repeats	Ovary	ovary
18	chr5:178540200-178543600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr5:178540200-178543600	ZNF genes & repeats	Fetal Lung	lung
20	chr5:178540400-178544000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:178540600-178542000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:178540600-178543800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr5:178541000-178547600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:178541400-178542200	ZNF genes & repeats	Gastric	stomach
25	chr5:178541400-178547600	Weak transcription	NHLF	lung

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