Variant report

Variant	rs57563616
Chromosome Location	chr10:4854499-4854500
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	chr10:4852442..4855384-chr10:4879168..4880754,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11252762	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12413616	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2167696	0.93[ASN][1000 genomes]
rs3100193	0.94[ASN][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	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4851000-4854600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:4851000-4854800	Weak transcription	NHEK	skin
3	chr10:4852800-4855000	Weak transcription	HUVEC	blood vessel
4	chr10:4853200-4855600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:4853200-4857800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr10:4853400-4855600	Enhancers	HMEC	breast
7	chr10:4853600-4854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:4853600-4855600	Enhancers	HSMM	muscle
9	chr10:4853800-4855400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:4853800-4855600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:4853800-4855600	Enhancers	NHLF	lung
12	chr10:4853800-4855800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr10:4854000-4854800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr10:4854000-4855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:4854000-4855400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:4854000-4855600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:4854000-4855800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:4854200-4854600	Weak transcription	Osteobl	bone
19	chr10:4854200-4855000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:4854200-4855400	Enhancers	Spleen	Spleen
21	chr10:4854200-4855600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:4854200-4855600	Flanking Active TSS	A549	lung
23	chr10:4854200-4855600	Enhancers	NH-A	brain
24	chr10:4854200-4855600	Enhancers	NHDF-Ad	bronchial
25	chr10:4854400-4854800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:4854400-4855200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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