Variant report

Variant	rs6549191
Chromosome Location	chr3:69310582-69310583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10049245	1.00[MEX][hapmap];0.92[MKK][hapmap]
rs10779991	1.00[MEX][hapmap];0.89[MKK][hapmap]
rs1483896	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2019272	1.00[AMR][1000 genomes]
rs4447768	1.00[MEX][hapmap]
rs4513455	1.00[MEX][hapmap]
rs4615082	1.00[AMR][1000 genomes]
rs4645139	1.00[MEX][hapmap]
rs4855370	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[AMR][1000 genomes]
rs7627121	0.84[AFR][1000 genomes]
rs9310145	1.00[MEX][hapmap];0.86[MKK][hapmap]

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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6549191	CPXM2	trans	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69293000-69343400	Weak transcription	HSMM	muscle
2	chr3:69293400-69339200	Weak transcription	Aorta	Aorta
3	chr3:69298000-69329600	Weak transcription	Dnd41	blood
4	chr3:69299400-69331400	Weak transcription	HUVEC	blood vessel
5	chr3:69299600-69320600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:69302600-69322800	Weak transcription	HMEC	breast
7	chr3:69302600-69322800	Weak transcription	NHEK	skin
8	chr3:69302800-69322800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:69306000-69320400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:69306200-69320200	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:69308400-69312200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:69308600-69314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:69309000-69313200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:69309200-69331200	Weak transcription	Fetal Lung	lung
15	chr3:69309800-69313400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:69310000-69311000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:69310000-69321600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:69310000-69337600	Weak transcription	Placenta	Placenta
19	chr3:69310200-69310600	Enhancers	Liver	Liver
20	chr3:69310200-69322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:69310200-69337200	Weak transcription	Lung	lung
22	chr3:69310400-69311400	Strong transcription	Primary hematopoietic stem cells	blood

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