Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72818726..72821056-chr2:72834950..72837136,2	MCF-7	breast:
2	chr2:72827697..72829477-chr2:72834836..72837419,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10084347	0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10167988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176180	0.80[AFR][1000 genomes]
rs10179254	1.00[MEX][hapmap]
rs10186172	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10188854	0.80[AFR][1000 genomes]
rs10191381	1.00[YRI][hapmap]
rs10197127	0.85[AFR][1000 genomes]
rs10206245	0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12105339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385811	1.00[MEX][hapmap]
rs13391821	1.00[MEX][hapmap]
rs13397743	1.00[MEX][hapmap]
rs13398051	0.81[AFR][1000 genomes]
rs13401801	0.85[AFR][1000 genomes]
rs13411428	0.84[YRI][hapmap]
rs13415635	1.00[YRI][hapmap]
rs13419598	1.00[MEX][hapmap]
rs13431249	0.84[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[AFR][1000 genomes]
rs590345	0.92[YRI][hapmap]
rs6715775	1.00[YRI][hapmap]
rs6729155	1.00[YRI][hapmap]
rs6749568	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13426691	DSC3	trans	lymphoblastoid	seeQTL
rs13426691	PRRX1	trans	lymphoblastoid	seeQTL
rs13426691	IL1R2	trans	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72830800-72837000	Weak transcription	Fetal Heart	heart
2	chr2:72831000-72839800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:72831000-72841400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:72831000-72841400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:72831400-72840000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:72831800-72841800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:72832000-72837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:72834000-72843600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:72835400-72837800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:72835400-72841400	Weak transcription	Brain Hippocampus Middle	brain

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