Variant report

Variant	rs17112559
Chromosome Location	chr1:56105654-56105655
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	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11206646	0.92[CHB][hapmap];0.92[ASN][1000 genomes]
rs12029835	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12035892	0.93[CHB][hapmap];0.85[AMR][1000 genomes]
rs12046600	0.92[CHB][hapmap];0.92[ASN][1000 genomes]
rs12047589	0.93[CHB][hapmap]
rs12403776	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs1392138	0.92[CHB][hapmap];0.92[ASN][1000 genomes]
rs1392139	0.93[CHB][hapmap];0.92[ASN][1000 genomes]
rs1499674	0.92[ASN][1000 genomes]
rs1499675	0.92[CHB][hapmap];0.92[ASN][1000 genomes]
rs17112560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17112610	0.93[CHB][hapmap];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17112615	0.92[CHB][hapmap];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17112658	0.93[CHB][hapmap];0.87[AMR][1000 genomes]
rs1828802	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1976362	0.92[ASN][1000 genomes]
rs3862236	0.92[CHB][hapmap];0.87[AMR][1000 genomes]
rs3889741	0.93[CHB][hapmap];0.87[AMR][1000 genomes]
rs3914412	0.93[CHB][hapmap];0.87[AMR][1000 genomes]
rs4317850	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs55888217	0.97[AMR][1000 genomes]
rs58586799	0.87[AMR][1000 genomes]
rs59832333	0.87[AMR][1000 genomes]
rs6672047	0.92[CHB][hapmap];0.87[AMR][1000 genomes]
rs6689891	0.93[CHB][hapmap];0.92[ASN][1000 genomes]
rs6693323	0.92[CHB][hapmap];0.92[ASN][1000 genomes]
rs74072496	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74075506	0.87[AMR][1000 genomes]
rs7513796	0.93[CHB][hapmap];0.87[AMR][1000 genomes]
rs7551229	0.93[CHB][hapmap];0.87[AMR][1000 genomes]
rs769973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv526148	chr1:56101597-56146450	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56098800-56105800	Weak transcription	Fetal Stomach	stomach
2	chr1:56099000-56106600	Weak transcription	Ovary	ovary
3	chr1:56099200-56105800	Weak transcription	Fetal Kidney	kidney
4	chr1:56100600-56106600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:56100800-56106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:56101200-56105800	Weak transcription	Psoas Muscle	Psoas
7	chr1:56101800-56106600	Weak transcription	Fetal Lung	lung
8	chr1:56102200-56106000	Weak transcription	NHLF	lung
9	chr1:56102400-56106000	Weak transcription	Aorta	Aorta
10	chr1:56102400-56106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:56102600-56105800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:56103000-56106400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:56103400-56106000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:56103400-56106400	Weak transcription	NHDF-Ad	bronchial
15	chr1:56103400-56107000	Weak transcription	Gastric	stomach
16	chr1:56104200-56106400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:56104600-56107000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:56104600-56107200	Enhancers	NHEK	skin
19	chr1:56104800-56106400	Enhancers	HMEC	breast
20	chr1:56104800-56106600	Weak transcription	Fetal Heart	heart
21	chr1:56104800-56106600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:56105000-56106600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:56105000-56107400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:56105200-56106200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:56105200-56107400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:56105400-56106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:56105600-56106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:56105600-56106600	Enhancers	Osteobl	bone

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