Variant report

Variant	rs1321280
Chromosome Location	chr6:132539647-132539648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132236129..132236633-chr6:132539268..132539863,2	MCF-7	breast:
2	6:132269655-132282174..6:132539300-132542380	GM12878	blood:
3	chr6:132270712..132271805-chr6:132538854..132539933,3	MCF-7	breast:
4	6:132182612-132191683..6:132539300-132542380	Hela-S3	cervix:
5	chr6:132529971..132530664-chr6:132539012..132539738,2	MCF-7	breast:
6	chr6:132281702..132282383-chr6:132538997..132539850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118523	Chromatin interaction
ENSG00000197594	Chromatin interaction
ENSG00000227220	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1321261	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1321279	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs1406932	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1406935	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1406939	0.81[CEU][hapmap]
rs1406940	0.84[JPT][hapmap]
rs1535196	0.85[JPT][hapmap]
rs1535197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535198	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3927419	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4142807	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs4142808	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs6569777	0.90[JPT][hapmap]
rs6569779	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6933036	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6935755	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7739344	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7739499	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7742430	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs7760956	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs9375866	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9385597	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9388967	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9402390	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs9402391	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9402392	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9483414	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs9493239	0.81[CEU][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762616	chr6:132404708-132584324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1024527	chr6:132532941-132571889	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132537400-132541000	Weak transcription	Osteobl	bone
2	chr6:132539000-132539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:132539000-132539800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:132539000-132541400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:132539600-132539800	Enhancers	Rectal Smooth Muscle	rectum

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