Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13478234..13480569-chr9:13486297..13488597,2	MCF-7	breast:
2	chr9:13474907..13477167-chr9:13477674..13479619,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10961068	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10961085	0.94[EUR][1000 genomes]
rs10961086	0.92[EUR][1000 genomes]
rs10961093	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1113190	0.90[EUR][1000 genomes]
rs12237191	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12238169	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1333994	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1556578	0.81[EUR][1000 genomes]
rs17462133	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17521458	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17521660	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1831906	0.81[EUR][1000 genomes]
rs2151660	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2184231	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28402800	0.91[EUR][1000 genomes]
rs2890968	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2890969	0.83[EUR][1000 genomes]
rs34561278	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67074307	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs988017	0.89[EUR][1000 genomes]
rs988018	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv831515	chr9:13333205-13517308	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1333993	ZDHHC21	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13476200-13487200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:13476800-13479400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:13477600-13479200	Enhancers	HSMM	muscle
4	chr9:13477600-13479400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:13477800-13479600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:13477800-13480600	Weak transcription	Pancreas	Pancrea
7	chr9:13477800-13491800	Weak transcription	Right Ventricle	heart
8	chr9:13478000-13480600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:13478000-13480600	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:13478000-13480600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:13478000-13482000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:13478200-13479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:13478600-13479200	Enhancers	Colon Smooth Muscle	Colon
14	chr9:13478600-13479200	Enhancers	HSMMtube	muscle
15	chr9:13478600-13479400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:13478600-13480800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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