Variant report

Variant	rs59890654
Chromosome Location	chr3:112500494-112500495
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112490402..112493050-chr3:112499007..112501789,2	K562	blood:
2	chr3:112490402..112493250-chr3:112496311..112501759,4	K562	blood:
3	chr3:112495297..112498050-chr3:112498718..112501433,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10934208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10934209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11535080	1.00[AMR][1000 genomes]
rs11536316	1.00[AMR][1000 genomes]
rs11543524	1.00[AMR][1000 genomes]
rs11560149	1.00[AMR][1000 genomes]
rs1249526	1.00[AMR][1000 genomes]
rs56666099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56820451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57287136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57360909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58105957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58271800	1.00[AFR][1000 genomes]
rs58514942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60481719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60671920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61191442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61526975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61674636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781211	0.95[ASN][1000 genomes]
rs72491118	1.00[AFR][1000 genomes]
rs72952104	1.00[AMR][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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112488000-112501200	Enhancers	NHLF	lung
2	chr3:112491200-112501200	Enhancers	NHDF-Ad	bronchial
3	chr3:112492200-112501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:112492200-112502000	Enhancers	NHEK	skin
5	chr3:112492800-112501000	Enhancers	HMEC	breast
6	chr3:112492800-112501000	Enhancers	HSMM	muscle
7	chr3:112492800-112501200	Enhancers	Osteobl	bone
8	chr3:112493000-112500800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:112495200-112501400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:112495200-112512600	Weak transcription	Spleen	Spleen
11	chr3:112495800-112500600	Enhancers	HSMMtube	muscle
12	chr3:112497200-112501400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:112497400-112500600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:112497400-112500800	Enhancers	Stomach Mucosa	stomach
15	chr3:112497600-112501600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:112498800-112502000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:112498800-112502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:112499000-112501600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:112499200-112500600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:112499400-112501200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:112499600-112500600	Weak transcription	NH-A	brain
22	chr3:112499600-112504200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:112500000-112501000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr3:112500000-112501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:112500000-112501800	Enhancers	A549	lung
26	chr3:112500200-112501400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:112500200-112504400	Weak transcription	K562	blood
28	chr3:112500400-112500800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr3:112500400-112502800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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