Variant report

Variant	rs7742752
Chromosome Location	chr6:27727051-27727052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27015857..27017940-chr6:27726768..27728788,2	K562	blood:
2	chr6:27476075..27477627-chr6:27726656..27728768,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11962485	1.00[CEU][hapmap]
rs11962868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11966528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11966565	1.00[ASN][1000 genomes]
rs11968469	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs200469	0.88[MKK][hapmap]
rs200471	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs200479	0.94[MKK][hapmap]
rs56002038	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59199903	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60339576	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901712	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906904	1.00[ASN][1000 genomes]
rs6906980	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6908615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6915101	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6936952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938018	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73384331	1.00[ASN][1000 genomes]
rs73389017	1.00[ASN][1000 genomes]
rs73389037	1.00[ASN][1000 genomes]
rs73389068	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461422	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9468227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7742752	Hs.158943	cis	multi-tissue	Pritchard

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27722600-27728000	Weak transcription	Hela-S3	cervix
2	chr6:27725600-27728000	Weak transcription	Osteobl	bone
3	chr6:27725600-27729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:27725600-27730200	Weak transcription	NHEK	skin
5	chr6:27725600-27743000	Weak transcription	Right Atrium	heart
6	chr6:27725800-27728200	Weak transcription	HMEC	breast
7	chr6:27725800-27728400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:27725800-27728800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:27725800-27728800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:27726000-27727800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:27726000-27728600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:27726000-27728800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:27726000-27729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:27726200-27727600	Enhancers	GM12878-XiMat	blood
15	chr6:27726400-27728200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:27726400-27728400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:27726400-27733000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:27726400-27738600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:27726600-27727200	Enhancers	Fetal Intestine Small	intestine
20	chr6:27726600-27728400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:27726600-27729400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:27726600-27729600	Enhancers	K562	blood
23	chr6:27727000-27728000	Enhancers	Dnd41	blood

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