Variant report

Variant	rs11948972
Chromosome Location	chr5:95555000-95555001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10476546	0.86[CEU][hapmap]
rs10866767	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11135450	0.86[CEU][hapmap]
rs11135457	0.89[CHB][hapmap];1.00[YRI][hapmap]
rs11743265	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs11747615	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11959068	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12659143	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13153770	0.82[AMR][1000 genomes]
rs13178392	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13181198	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1995186	0.81[EUR][1000 genomes]
rs34023054	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34639000	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34713740	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34973883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3792744	1.00[YRI][hapmap]
rs3811942	1.00[ASW][hapmap];0.93[MEX][hapmap]
rs3922467	0.92[EUR][1000 genomes]
rs4424016	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4529218	0.95[CEU][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4637573	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4869276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869284	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs62367170	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6866846	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7444135	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518730	chr5:95547545-95569569	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11948972	TTC37	cis	cerebellum	SCAN
rs11948972	ERAP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95533000-95555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:95545800-95555600	Weak transcription	Psoas Muscle	Psoas
3	chr5:95546200-95555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:95546400-95555000	Weak transcription	NHDF-Ad	bronchial
5	chr5:95546400-95555200	Weak transcription	HSMM	muscle
6	chr5:95550600-95555200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:95550800-95555000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:95550800-95555000	Weak transcription	Osteobl	bone
9	chr5:95550800-95555400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:95550800-95555400	Weak transcription	NHLF	lung
11	chr5:95551400-95555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:95551400-95555600	Weak transcription	A549	lung
13	chr5:95551400-95561600	Weak transcription	HepG2	liver
14	chr5:95553400-95555600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:95553800-95557200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:95554600-95555000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:95554600-95555000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:95555000-95555600	Enhancers	Osteobl	bone
19	chr5:95555000-95555800	Enhancers	NHDF-Ad	bronchial
20	chr5:95555000-95556000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:95555000-95556000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:95555000-95556000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:95555000-95557000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:95555000-95557600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95555000-95557600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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