Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64154972..64157726-chr11:64176827..64179466,2	MCF-7	breast:
2	chr11:64165676..64167437-chr11:64176684..64179311,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10897503	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1662189	0.97[EUR][1000 genomes]
rs2083711	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28680814	0.80[EUR][1000 genomes]
rs4930353	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs521319	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs548333	1.00[CEU][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs561667	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562560	0.89[EUR][1000 genomes]
rs564163	0.97[EUR][1000 genomes]
rs566409	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs577304	0.97[EUR][1000 genomes]
rs61884054	0.90[EUR][1000 genomes]
rs653565	0.82[CEU][hapmap];0.81[GIH][hapmap]
rs653578	0.82[CEU][hapmap];0.81[GIH][hapmap]
rs72929971	0.80[EUR][1000 genomes]
rs7936543	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937023	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937125	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7951702	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10792432	KDM2A	cis	parietal	SCAN
rs10792432	CD6	cis	cerebellum	SCAN
rs10792432	TRMT112	cis	parietal	SCAN
rs10792432	FKBP2	cis	parietal	SCAN
rs10792432	CCDC88B	cis	cerebellum	SCAN
rs10792432	CCS	cis	cerebellum	SCAN
rs10792432	POLD4	cis	cerebellum	SCAN
rs10792432	SLC25A45	cis	parietal	SCAN
rs10792432	FKBP2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64173000-64178800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:64173200-64178800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:64174200-64182200	Weak transcription	Spleen	Spleen
4	chr11:64174400-64182400	Weak transcription	Right Ventricle	heart
5	chr11:64174400-64182600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:64174400-64182600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:64176400-64179000	Enhancers	Fetal Muscle Leg	muscle
8	chr11:64176400-64179000	Enhancers	Placenta	Placenta
9	chr11:64177000-64182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64177400-64182600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:64177800-64178800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr11:64178000-64182400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:64178000-64184200	Weak transcription	Right Atrium	heart
14	chr11:64178200-64179200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:64178200-64182400	Weak transcription	Fetal Lung	lung
16	chr11:64178200-64182600	Weak transcription	Fetal Thymus	thymus
17	chr11:64178400-64182400	Weak transcription	Fetal Heart	heart
18	chr11:64178400-64182400	Weak transcription	Fetal Stomach	stomach
19	chr11:64178600-64179000	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:64178600-64179000	Enhancers	Monocytes-CD14+_RO01746	blood

Quick Search: