Variant report

Variant	rs4803798
Chromosome Location	chr19:45598349-45598350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:45598240-45598390	AG09309	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45571923..45576077-chr19:45594481..45600071,10	MCF-7	breast:
2	chr19:45594755..45598539-chr19:45681810..45685400,4	K562	blood:
3	chr19:45577259..45585589-chr19:45592358..45603656,27	K562	blood:
4	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:
5	chr19:45576986..45585099-chr19:45592126..45598719,16	MCF-7	breast:
6	chr19:45416225..45418303-chr19:45596248..45598636,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267348	TF binding region
PPP1R37	TF binding region
ENSG00000007047	Chromatin interaction
ENSG00000267545	Chromatin interaction
ENSG00000130208	Chromatin interaction
ENSG00000142252	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000170684	Chromatin interaction
ENSG00000104859	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10402479	1.00[ASN][1000 genomes]
rs10403214	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10406911	1.00[ASN][1000 genomes]
rs10407374	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408462	1.00[ASN][1000 genomes]
rs10409138	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415674	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10417101	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417347	1.00[ASN][1000 genomes]
rs10417618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419874	1.00[ASN][1000 genomes]
rs10419883	0.81[AFR][1000 genomes]
rs10420717	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10420824	1.00[ASN][1000 genomes]
rs10421085	1.00[ASN][1000 genomes]
rs10421425	1.00[ASN][1000 genomes]
rs10421932	1.00[ASN][1000 genomes]
rs10422671	1.00[ASN][1000 genomes]
rs10423079	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10423555	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10424651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425380	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1076384	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12459386	1.00[ASN][1000 genomes]
rs12459402	1.00[ASN][1000 genomes]
rs12459945	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461416	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12461749	1.00[ASN][1000 genomes]
rs13344055	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13344075	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13345307	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1541926	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979688	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17562676	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17562787	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17642665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982077	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003183	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2003345	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2004356	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2011438	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041261	1.00[ASN][1000 genomes]
rs2041263	1.00[ASN][1000 genomes]
rs2043320	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2060252	1.00[ASN][1000 genomes]
rs2060253	1.00[ASN][1000 genomes]
rs28404390	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28657408	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28706378	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28719739	1.00[ASN][1000 genomes]
rs35904300	1.00[ASN][1000 genomes]
rs4427916	1.00[ASN][1000 genomes]
rs4608431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56764148	0.81[AFR][1000 genomes]
rs58260098	1.00[ASN][1000 genomes]
rs58600209	1.00[ASN][1000 genomes]
rs58854055	1.00[ASN][1000 genomes]
rs58880456	1.00[ASN][1000 genomes]
rs59240271	1.00[ASN][1000 genomes]
rs60372869	1.00[ASN][1000 genomes]
rs60455813	1.00[ASN][1000 genomes]
rs61531804	1.00[ASN][1000 genomes]
rs7251651	1.00[ASN][1000 genomes]
rs7254138	1.00[ASN][1000 genomes]
rs7257566	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7257599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259404	1.00[ASN][1000 genomes]
rs733289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562250	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562267	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562286	1.00[ASN][1000 genomes]
rs73939607	1.00[ASN][1000 genomes]
rs747646	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs747647	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs754364	1.00[ASN][1000 genomes]
rs754365	1.00[ASN][1000 genomes]
rs754367	1.00[ASN][1000 genomes]
rs8101046	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892133	1.00[ASN][1000 genomes]
rs9653111	1.00[ASN][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
rs4803798	EIF5AP3	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45594400-45599200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:45596600-45598400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr19:45596800-45598400	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr19:45597000-45598400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:45597000-45598400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:45597000-45598400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:45597000-45598400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr19:45597000-45598400	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr19:45597000-45598400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr19:45597000-45598400	Flanking Active TSS	Fetal Brain Female	brain
11	chr19:45597000-45598400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr19:45597000-45598800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:45597200-45598400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:45597200-45599800	Enhancers	Spleen	Spleen
15	chr19:45597200-45600600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr19:45597400-45598400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:45597400-45598400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr19:45597400-45598600	Enhancers	Brain Substantia Nigra	brain
19	chr19:45597400-45598600	Enhancers	Ovary	ovary
20	chr19:45597400-45599200	Enhancers	Primary B cells from cord blood	blood
21	chr19:45597400-45599200	Enhancers	Primary B cells from peripheral blood	blood
22	chr19:45597400-45599600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:45597400-45599800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:45597400-45599800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:45597400-45599800	Enhancers	Fetal Heart	heart
26	chr19:45597400-45599800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr19:45597400-45601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:45597400-45601200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr19:45597400-45601600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:45597400-45602200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:45597400-45602800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr19:45597400-45603000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr19:45597400-45603000	Enhancers	Fetal Brain Male	brain
34	chr19:45597400-45603200	Enhancers	Left Ventricle	heart
35	chr19:45597400-45604600	Enhancers	Placenta	Placenta
36	chr19:45597400-45609400	Enhancers	Stomach Mucosa	stomach
37	chr19:45597600-45598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr19:45597600-45598400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:45597600-45598400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:45597600-45598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:45597600-45598400	Enhancers	Esophagus	oesophagus
42	chr19:45597600-45598400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr19:45597600-45598400	Enhancers	HSMMtube	muscle
44	chr19:45597600-45598400	Enhancers	HUVEC	blood vessel
45	chr19:45597600-45598400	Enhancers	NH-A	brain
46	chr19:45597600-45599000	Enhancers	Fetal Thymus	thymus
47	chr19:45597600-45599200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:45597600-45599400	Genic enhancers	Fetal Stomach	stomach
49	chr19:45597600-45600000	Enhancers	Right Ventricle	heart
50	chr19:45597600-45600200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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