Variant report

Variant	rs2050153
Chromosome Location	chr6:133035775-133035776
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	chr6:133033870..133035387-chr6:133035494..133037311,2	K562	blood:

Variant related genes	Relation type
ENSG00000112299	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2050154	0.80[EUR][1000 genomes]
rs2223613	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2247269	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2247284	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2247285	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2262437	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2262438	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2294757	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2300077	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2327275	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2745435	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2745436	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2745437	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2745439	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2745441	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2745442	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2745443	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2840815	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840816	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840817	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2840818	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840819	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2840820	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840821	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840822	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840823	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840824	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840825	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2840826	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3798792	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4897600	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4897604	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4897609	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4897610	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4897612	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936833	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6938196	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7742200	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9389027	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9399038	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs990499	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs990500	0.88[AMR][1000 genomes];0.88[EUR][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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription 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	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2050153	VNN1	cis	lung	GTEx
rs2050153	VNN1	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133033600-133035800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr6:133033800-133036600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:133034600-133035800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:133034800-133053200	Weak transcription	Placenta	Placenta
5	chr6:133035200-133036200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:133035200-133038600	Weak transcription	Stomach Mucosa	stomach
7	chr6:133035400-133044200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:133035600-133035800	Enhancers	Duodenum Mucosa	Duodenum
9	chr6:133035600-133037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:133035600-133037600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:133035600-133037600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:133035600-133038000	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:133035600-133038200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:133035600-133040400	Weak transcription	Fetal Intestine Large	intestine
15	chr6:133035600-133040400	Weak transcription	Fetal Intestine Small	intestine
16	chr6:133035600-133041200	Enhancers	Liver	Liver

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