Variant report

Variant	rs28475680
Chromosome Location	chr1:56106194-56106195
allele	A/C
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1039295	1.00[EUR][1000 genomes]
rs11206645	1.00[EUR][1000 genomes]
rs1165460	1.00[EUR][1000 genomes]
rs12059018	1.00[EUR][1000 genomes]
rs12068867	1.00[EUR][1000 genomes]
rs12070792	0.83[AFR][1000 genomes]
rs12071564	1.00[EUR][1000 genomes]
rs12076746	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12077200	1.00[AFR][1000 genomes]
rs12081733	1.00[EUR][1000 genomes]
rs12088041	1.00[EUR][1000 genomes]
rs12089902	1.00[AFR][1000 genomes]
rs1392137	1.00[EUR][1000 genomes]
rs17112410	1.00[EUR][1000 genomes]
rs17112413	1.00[EUR][1000 genomes]
rs59236443	1.00[EUR][1000 genomes]
rs59539072	1.00[EUR][1000 genomes]
rs60149406	1.00[EUR][1000 genomes]
rs6677373	1.00[EUR][1000 genomes]
rs7416182	1.00[EUR][1000 genomes]
rs7520444	1.00[EUR][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56099000-56106600	Weak transcription	Ovary	ovary
2	chr1:56100600-56106600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:56100800-56106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:56101800-56106600	Weak transcription	Fetal Lung	lung
5	chr1:56102400-56106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:56103000-56106400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:56103400-56106400	Weak transcription	NHDF-Ad	bronchial
8	chr1:56103400-56107000	Weak transcription	Gastric	stomach
9	chr1:56104200-56106400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:56104600-56107000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:56104600-56107200	Enhancers	NHEK	skin
12	chr1:56104800-56106400	Enhancers	HMEC	breast
13	chr1:56104800-56106600	Weak transcription	Fetal Heart	heart
14	chr1:56104800-56106600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:56105000-56106600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:56105000-56107400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:56105200-56106200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:56105200-56107400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:56105400-56106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:56105600-56106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:56105600-56106600	Enhancers	Osteobl	bone
22	chr1:56105800-56106600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:56105800-56106600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:56105800-56107400	Enhancers	Fetal Stomach	stomach
25	chr1:56106000-56106200	Enhancers	Left Ventricle	heart
26	chr1:56106000-56106400	Weak transcription	Psoas Muscle	Psoas
27	chr1:56106000-56106400	Enhancers	Thymus	Thymus
28	chr1:56106000-56106600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:56106000-56106600	Enhancers	Aorta	Aorta
30	chr1:56106000-56106600	Weak transcription	Fetal Kidney	kidney
31	chr1:56106000-56107600	Enhancers	NHLF	lung

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