Variant report

Variant	rs648125
Chromosome Location	chr6:36524911-36524912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36523233..36527454-chr6:36560402..36564632,7	MCF-7	breast:
2	chr6:36524472..36526029-chr6:36572608..36574439,2	MCF-7	breast:
3	chr6:36522642..36525654-chr6:36546165..36549998,4	MCF-7	breast:
4	chr6:36523665..36533327-chr6:36560183..36564350,15	K562	blood:
5	chr6:36524883..36528605-chr6:36543628..36546021,5	MCF-7	breast:
6	chr6:36524459..36530212-chr6:36535986..36541139,5	MCF-7	breast:
7	chr6:36510007..36526277-chr6:36558145..36566762,35	K562	blood:
8	chr6:36521727..36524987-chr6:36525376..36528528,3	K562	blood:
9	chr6:36513276..36517256-chr6:36524095..36526073,4	K562	blood:
10	chr6:36512337..36518540-chr6:36522888..36526719,9	MCF-7	breast:
11	chr6:36524196..36527132-chr6:36635202..36638000,2	MCF-7	breast:
12	chr6:36514605..36517306-chr6:36524573..36526525,2	K562	blood:
13	chr6:36522635..36525085-chr6:36558432..36560977,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction
ENSG00000112079	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1003250	0.88[CEU][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes]
rs10440841	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10947609	0.91[JPT][hapmap]
rs12214285	0.84[AMR][1000 genomes]
rs1570368	0.91[JPT][hapmap]
rs3752478	0.87[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap]
rs4140593	0.87[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap]
rs4711452	0.91[JPT][hapmap]
rs4711453	0.87[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap]
rs544267	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs566742	0.84[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs584196	0.83[AMR][1000 genomes]
rs595954	0.87[ASW][hapmap];0.88[CEU][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes]
rs605684	0.83[CEU][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs609067	0.90[AMR][1000 genomes]
rs614028	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs619011	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs621796	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs628213	0.90[AMR][1000 genomes]
rs629560	0.83[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs632943	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs659726	0.87[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs664370	0.84[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs668499	0.86[CEU][hapmap]
rs6923993	0.84[CEU][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes]
rs7744363	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs853873	0.83[AMR][1000 genomes]
rs853882	0.83[AMR][1000 genomes]
rs860513	0.83[AMR][1000 genomes]
rs9357214	0.83[AMR][1000 genomes]
rs9470274	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs9470278	0.84[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs9470285	0.80[AMR][1000 genomes]
rs9470309	0.90[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs648125	ETV7	cis	Whole Blood	GTEx
rs648125	CPNE5	cis	cerebellum	SCAN
rs648125	PXT1	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36522800-36526600	Weak transcription	Adipose Nuclei	Adipose
2	chr6:36523000-36527000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:36523400-36525000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:36523400-36528400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:36523600-36525200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:36523800-36525400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:36524000-36529600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:36524200-36525000	Weak transcription	HSMMtube	muscle
9	chr6:36524200-36525600	Weak transcription	Hela-S3	cervix
10	chr6:36524600-36525800	Enhancers	A549	lung
11	chr6:36524800-36527600	Weak transcription	Primary B cells from cord blood	blood

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