Variant report

Variant	rs17113266
Chromosome Location	chr1:56455067-56455068
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	chr1:56453401..56456285-chr1:56458456..56460336,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17113293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17113390	1.00[AMR][1000 genomes]
rs17113395	1.00[AMR][1000 genomes]
rs2896880	1.00[AMR][1000 genomes]
rs58563317	1.00[AMR][1000 genomes]
rs60333097	1.00[AMR][1000 genomes]
rs61628408	1.00[AMR][1000 genomes]
rs72908400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72910303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72910322	1.00[AMR][1000 genomes]
rs72912224	1.00[AMR][1000 genomes]
rs7547444	1.00[AMR][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	nsv870513	chr1:56407227-56493106	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1003385	chr1:56430742-56468732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56451400-56455400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:56451400-56456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:56451400-56456200	Enhancers	Adipose Nuclei	Adipose
4	chr1:56451400-56457800	Enhancers	Fetal Lung	lung
5	chr1:56451800-56456400	Weak transcription	Placenta	Placenta
6	chr1:56452800-56457200	Enhancers	Ovary	ovary
7	chr1:56453200-56455400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:56453200-56455400	Enhancers	Fetal Stomach	stomach
9	chr1:56453400-56457000	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:56453600-56455200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:56453600-56455200	Weak transcription	Psoas Muscle	Psoas
12	chr1:56453600-56455200	Weak transcription	Right Atrium	heart
13	chr1:56453800-56455200	Weak transcription	NHDF-Ad	bronchial
14	chr1:56453800-56456000	Weak transcription	HSMMtube	muscle
15	chr1:56453800-56456800	Weak transcription	Aorta	Aorta
16	chr1:56454000-56455200	Weak transcription	Brain Substantia Nigra	brain
17	chr1:56454000-56455200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:56454200-56459000	Weak transcription	Osteobl	bone
19	chr1:56454400-56456800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:56454600-56455200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:56454600-56459200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:56454600-56459600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:56455000-56455200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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