Variant report

Variant	rs950374
Chromosome Location	chr6:133631190-133631191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10457606	0.87[EUR][1000 genomes]
rs10872404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154722	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11154723	0.91[EUR][1000 genomes]
rs1336519	0.94[EUR][1000 genomes]
rs1932746	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2180730	0.83[CHB][hapmap]
rs2184784	0.80[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2327321	0.83[CHB][hapmap]
rs6569877	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6569878	0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs6900552	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs6924629	1.00[CEU][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6926146	0.84[ASN][1000 genomes]
rs6930942	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6941848	0.83[CHB][hapmap]
rs754997	0.83[CHB][hapmap]
rs9321395	0.83[CHB][hapmap]
rs9321396	0.83[CHB][hapmap]
rs9373052	0.80[CEU][hapmap]
rs9375956	0.91[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs9399059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483564	0.83[CHB][hapmap]
rs9483565	0.83[CHB][hapmap]
rs9483568	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs9483575	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9493580	0.83[CHB][hapmap]
rs9493581	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv886679	chr6:133578733-133635272	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv886680	chr6:133613759-133663021	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs950374	L3MBTL3	cis	parietal	SCAN
rs950374	ARG1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133613000-133655000	Weak transcription	Hela-S3	cervix
2	chr6:133623200-133636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:133627000-133633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:133627400-133633200	Weak transcription	Psoas Muscle	Psoas
5	chr6:133627600-133637000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:133629400-133639600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:133629800-133633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:133630600-133631200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:133630600-133631600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:133630600-133631600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:133631000-133631400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:133631000-133635800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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