Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170129471..170132945-chr1:170134793..170138535,3	K562	blood:

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs473943	0.84[YRI][hapmap]
rs497063	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs504944	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs521197	0.83[YRI][hapmap]
rs548458	0.80[YRI][hapmap]
rs55653977	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55679092	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs576572	0.81[AMR][1000 genomes]
rs61825690	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61825691	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73025430	0.91[ASN][1000 genomes]
rs73041144	0.85[EUR][1000 genomes]
rs951490	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs471045	C1orf156	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170126200-170135600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:170131000-170132000	Weak transcription	Right Ventricle	heart
3	chr1:170131200-170131600	Enhancers	Fetal Heart	heart
4	chr1:170131200-170131800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:170131200-170132000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:170131200-170133000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:170131400-170131600	Enhancers	Aorta	Aorta
8	chr1:170131400-170131600	Enhancers	Left Ventricle	heart
9	chr1:170131400-170131600	Enhancers	HSMMtube	muscle
10	chr1:170131400-170132200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:170131400-170132400	Enhancers	Psoas Muscle	Psoas
12	chr1:170131400-170132400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:170131400-170132400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:170131400-170132600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:170131400-170132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:170131400-170132600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:170131400-170132600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:170131400-170132600	Enhancers	HSMM	muscle
19	chr1:170131400-170132600	Enhancers	NH-A	brain
20	chr1:170131400-170132600	Enhancers	Osteobl	bone
21	chr1:170131400-170133200	Enhancers	NHDF-Ad	bronchial

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