Variant report

Variant	rs1055448
Chromosome Location	chr17:67055901-67055902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67054448..67056090-chr17:67057770..67060664,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10852783	1.00[CEU][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11077910	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11650025	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1860447	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1860448	0.89[EUR][1000 genomes]
rs2041320	0.89[EUR][1000 genomes]
rs2364312	0.85[EUR][1000 genomes]
rs2364314	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4968831	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4968989	0.89[EUR][1000 genomes]
rs4968990	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4968994	0.91[EUR][1000 genomes]
rs6501957	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7212490	0.91[EUR][1000 genomes]
rs732010	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9284343	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9902504	0.80[AMR][1000 genomes];0.98[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
3	chr17:67046200-67057000	Weak transcription	HUVEC	blood vessel
4	chr17:67048400-67057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:67053800-67057000	Weak transcription	Stomach Mucosa	stomach
6	chr17:67053800-67066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:67055000-67056200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:67055000-67056200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr17:67055200-67056200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:67055200-67056200	Flanking Active TSS	Ovary	ovary
11	chr17:67055200-67056400	Active TSS	Right Atrium	heart
12	chr17:67055200-67056400	Flanking Active TSS	NHDF-Ad	bronchial
13	chr17:67055400-67056000	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr17:67055400-67056200	Active TSS	Stomach Smooth Muscle	stomach
15	chr17:67055400-67057200	Enhancers	Fetal Kidney	kidney
16	chr17:67055400-67058000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr17:67055400-67058000	Enhancers	Brain Substantia Nigra	brain
18	chr17:67055600-67056000	Active TSS	Rectal Smooth Muscle	rectum
19	chr17:67055600-67056200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:67055600-67056200	Active TSS	Left Ventricle	heart
21	chr17:67055600-67056200	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr17:67055600-67056200	Flanking Active TSS	Osteobl	bone
23	chr17:67055600-67056400	Enhancers	Brain Angular Gyrus	brain
24	chr17:67055600-67057800	Enhancers	Brain Germinal Matrix	brain
25	chr17:67055600-67058000	Enhancers	Brain Anterior Caudate	brain
26	chr17:67055800-67056200	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr17:67055800-67056200	Active TSS	Fetal Muscle Trunk	muscle
28	chr17:67055800-67056400	Enhancers	Brain Cingulate Gyrus	brain
29	chr17:67055800-67057000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:67055800-67057200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:67055800-67057600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:67055800-67057600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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