Variant report

Variant	rs1351054
Chromosome Location	chr4:54543242-54543243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54538463..54540033-chr4:54542126..54544884,2	K562	blood:
2	chr4:54537947..54540033-chr4:54541498..54544884,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17083526	1.00[EUR][1000 genomes]
rs2572294	1.00[AMR][1000 genomes]
rs2590788	1.00[EUR][1000 genomes]
rs2590811	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56297679	1.00[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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3449865	chr4:54541828-54543952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv15022	chr4:54541987-54543303	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54542200-54543400	Enhancers	Adipose Nuclei	Adipose
2	chr4:54542200-54543400	Enhancers	Ovary	ovary
3	chr4:54542200-54543400	Enhancers	NHLF	lung
4	chr4:54542200-54543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:54542200-54543600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:54542200-54543800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:54542200-54543800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:54542400-54543400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:54542400-54543400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:54542400-54543400	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:54542400-54543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:54542400-54543400	Enhancers	Liver	Liver
13	chr4:54542400-54543400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr4:54542400-54543400	Enhancers	Osteobl	bone
15	chr4:54542800-54543600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:54543000-54543400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:54543000-54543600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:54543200-54543400	Enhancers	Aorta	Aorta
19	chr4:54543200-54543600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:54543200-54547800	Weak transcription	NHDF-Ad	bronchial
21	chr4:54543200-54550400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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