Variant report

Variant	rs211438
Chromosome Location	chr6:133613759-133613760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1336527	0.80[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes]
rs1336528	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs1799679	0.82[EUR][1000 genomes]
rs1932747	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs211432	0.87[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs211433	0.87[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs211436	0.81[EUR][1000 genomes]
rs211443	0.80[TSI][hapmap]
rs296415	0.81[EUR][1000 genomes]
rs296419	0.81[EUR][1000 genomes]
rs370735	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412771	1.00[JPT][hapmap]
rs448167	0.82[EUR][1000 genomes]
rs473055	0.93[GIH][hapmap];0.80[TSI][hapmap]
rs512268	0.88[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs561355	0.80[TSI][hapmap]
rs6924144	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6941879	0.94[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7764052	0.85[ASN][1000 genomes]
rs9389065	0.82[YRI][hapmap]
rs9493593	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs950375	0.87[CHB][hapmap];0.85[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	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs211438	LOC285735	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133594200-133614000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:133594200-133617200	Weak transcription	Left Ventricle	heart
3	chr6:133599000-133629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:133605600-133614000	Weak transcription	Psoas Muscle	Psoas
5	chr6:133611600-133613800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:133611600-133614400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:133612000-133613800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:133613000-133614200	Weak transcription	Ovary	ovary
9	chr6:133613000-133630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:133613000-133655000	Weak transcription	Hela-S3	cervix
11	chr6:133613200-133614400	Enhancers	Fetal Stomach	stomach
12	chr6:133613400-133617000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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