Variant report

Variant	rs1493018
Chromosome Location	chr4:142730076-142730077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10002081	0.98[ASN][1000 genomes]
rs10016348	0.96[ASN][1000 genomes]
rs10033645	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1155303	0.97[ASN][1000 genomes]
rs1155304	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1155305	0.97[ASN][1000 genomes]
rs1155306	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12646138	0.96[ASN][1000 genomes]
rs1372884	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1389101	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015014	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17015092	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015102	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015106	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015108	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015119	0.97[ASN][1000 genomes]
rs17516234	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1845152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867170	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2035917	0.98[ASN][1000 genomes]
rs2099884	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2241912	0.97[ASN][1000 genomes]
rs4593213	0.97[ASN][1000 genomes]
rs4956306	0.98[ASN][1000 genomes]
rs4956308	0.98[ASN][1000 genomes]
rs4956416	0.96[ASN][1000 genomes]
rs4956417	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4956418	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4956419	0.90[ASN][1000 genomes]
rs56336584	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59222913	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62329014	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62329023	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62329024	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62329026	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537075	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6816324	0.96[ASN][1000 genomes]
rs6817546	0.97[ASN][1000 genomes]
rs6823281	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6833488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6837322	0.97[ASN][1000 genomes]
rs6847644	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6850346	0.98[ASN][1000 genomes]
rs7667456	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7676010	0.89[AFR][1000 genomes];0.97[ASN][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	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830095	chr4:142695078-142884988	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1493018	MMAA	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142728800-142732400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:142729000-142730800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:142729000-142731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:142729000-142731200	Weak transcription	HSMM	muscle
5	chr4:142729000-142731600	Weak transcription	NH-A	brain
6	chr4:142729000-142732200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:142729000-142733600	Weak transcription	A549	lung
8	chr4:142729200-142730800	Weak transcription	Osteobl	bone
9	chr4:142729200-142731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:142729200-142731200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:142729200-142731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:142729200-142732000	Weak transcription	HSMMtube	muscle
13	chr4:142729200-142735600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:142729400-142731200	Weak transcription	NHDF-Ad	bronchial
15	chr4:142729400-142731400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:142729600-142731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:142729600-142731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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