Variant report

Variant	rs7257566
Chromosome Location	chr19:45616944-45616945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45580304..45582945-chr19:45616635..45618863,2	MCF-7	breast:
2	chr19:45614684..45617041-chr19:45633377..45634958,2	MCF-7	breast:
3	chr19:45614720..45618977-chr19:45620607..45623011,6	K562	blood:
4	chr19:45572175..45574996-chr19:45615451..45617937,3	MCF-7	breast:
5	chr19:45615655..45617695-chr19:45672938..45674572,2	MCF-7	breast:
6	chr19:45600442..45604383-chr19:45616906..45618881,3	K562	blood:
7	chr19:45611325..45613893-chr19:45616421..45619737,3	K562	blood:
8	chr19:45615686..45618373-chr19:45634165..45635845,2	MCF-7	breast:
9	chr19:45244778..45247481-chr19:45616190..45618062,2	MCF-7	breast:
10	chr19:45614303..45618965-chr19:45619228..45622804,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000007047	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000142252	Chromatin interaction
ENSG00000104859	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10403214	1.00[EUR][1000 genomes]
rs10405306	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10405719	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10405721	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10407374	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10408366	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10409138	0.82[EUR][1000 genomes]
rs10409232	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10409727	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10409903	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10410424	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10412988	0.98[EUR][1000 genomes]
rs10417101	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10417618	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10417804	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10421932	0.81[EUR][1000 genomes]
rs10424651	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12459945	0.82[EUR][1000 genomes]
rs12461416	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1541926	0.98[EUR][1000 genomes]
rs17562676	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17562787	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17642665	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1982077	0.98[EUR][1000 genomes]
rs2011438	0.80[EUR][1000 genomes]
rs4608431	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4803798	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7257599	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs733289	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73562250	0.82[EUR][1000 genomes]
rs73562267	0.82[EUR][1000 genomes]
rs8101046	0.82[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	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7257566	EIF5AP3	cis	lung	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45603800-45619600	Weak transcription	HSMMtube	muscle
2	chr19:45606600-45618000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:45606600-45623400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:45606600-45624800	Weak transcription	NHEK	skin
5	chr19:45606800-45621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:45606800-45634000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:45607200-45625600	Weak transcription	NHLF	lung
8	chr19:45607600-45626600	Weak transcription	Fetal Brain Male	brain
9	chr19:45607800-45620400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:45607800-45620600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:45608000-45618400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:45608000-45619800	Weak transcription	Brain Germinal Matrix	brain
13	chr19:45608000-45620800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:45608000-45639400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:45608200-45619800	Weak transcription	Adipose Nuclei	Adipose
16	chr19:45608400-45629200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:45608600-45618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:45608600-45619400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:45608600-45619600	Weak transcription	Psoas Muscle	Psoas
20	chr19:45608600-45621000	Weak transcription	Fetal Brain Female	brain
21	chr19:45608800-45618600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr19:45608800-45618600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:45608800-45619600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:45609000-45618600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:45609000-45621400	Weak transcription	Right Atrium	heart
26	chr19:45609200-45619400	Weak transcription	Brain Angular Gyrus	brain
27	chr19:45609200-45620600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:45609200-45620600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:45609400-45618200	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:45610400-45644400	Weak transcription	Aorta	Aorta
31	chr19:45611200-45618600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:45611600-45619200	Weak transcription	Thymus	Thymus
33	chr19:45613200-45618400	Weak transcription	Dnd41	blood
34	chr19:45613200-45623600	Weak transcription	Ovary	ovary
35	chr19:45613400-45621800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:45614200-45623000	Enhancers	Stomach Mucosa	stomach
37	chr19:45614400-45618000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:45614400-45618600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr19:45614400-45619200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:45614400-45619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:45614400-45619400	Weak transcription	Left Ventricle	heart
42	chr19:45614600-45618800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr19:45614600-45619200	Weak transcription	K562	blood
44	chr19:45614800-45619800	Genic enhancers	Fetal Intestine Small	intestine
45	chr19:45615000-45617200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:45615000-45619200	Weak transcription	Spleen	Spleen
47	chr19:45615000-45619600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:45615400-45619400	Enhancers	Gastric	stomach
49	chr19:45615600-45617200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr19:45615600-45617800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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