Variant report

Variant	rs1982077
Chromosome Location	chr19:45597848-45597849
allele	C/T
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:8)
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	POLR2A	chr19:45597634-45597869	HepG2	liver:	n/a	n/a

No data

(count:8 , 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	chr19:45595033..45597870-chr19:45646652..45650476,4	MCF-7	breast:
5	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:
6	chr19:45576986..45585099-chr19:45592126..45598719,16	MCF-7	breast:
7	chr19:45580763..45587822-chr19:45593153..45598212,14	K562	blood:
8	chr19:45416225..45418303-chr19:45596248..45598636,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267348	TF binding region
ENSG00000267545	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000170684	Chromatin interaction
ENSG00000007047	Chromatin interaction
ENSG00000142252	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000130208	Chromatin interaction
ENSG00000104859	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10402479	1.00[ASN][1000 genomes]
rs10403214	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405306	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405719	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405721	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10406911	1.00[ASN][1000 genomes]
rs10407374	1.00[EUR][1000 genomes]
rs10408366	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408462	1.00[ASN][1000 genomes]
rs10409138	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409232	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409727	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409903	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410424	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412988	1.00[EUR][1000 genomes]
rs10415674	1.00[ASN][1000 genomes]
rs10417101	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417347	1.00[ASN][1000 genomes]
rs10417618	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417804	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419874	1.00[ASN][1000 genomes]
rs10420717	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	1.00[ASN][1000 genomes]
rs10423555	1.00[ASN][1000 genomes]
rs10424651	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425380	1.00[ASN][1000 genomes]
rs1076384	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	1.00[EUR][1000 genomes]
rs12461749	1.00[ASN][1000 genomes]
rs13344055	1.00[ASN][1000 genomes]
rs13344075	1.00[ASN][1000 genomes]
rs13345307	1.00[ASN][1000 genomes]
rs1541926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979688	1.00[ASN][1000 genomes]
rs17562676	1.00[EUR][1000 genomes]
rs17562787	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17642665	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003183	1.00[ASN][1000 genomes]
rs2003345	1.00[ASN][1000 genomes]
rs2004356	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	1.00[ASN][1000 genomes]
rs2060252	1.00[ASN][1000 genomes]
rs2060253	1.00[ASN][1000 genomes]
rs28404390	1.00[ASN][1000 genomes]
rs28657408	1.00[ASN][1000 genomes]
rs28706378	1.00[ASN][1000 genomes]
rs28719739	1.00[ASN][1000 genomes]
rs35904300	1.00[ASN][1000 genomes]
rs4427916	1.00[ASN][1000 genomes]
rs4608431	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803798	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	0.98[EUR][1000 genomes]
rs7257599	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259404	1.00[ASN][1000 genomes]
rs733289	0.83[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	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562286	1.00[ASN][1000 genomes]
rs73939607	1.00[ASN][1000 genomes]
rs747646	1.00[ASN][1000 genomes]
rs747647	1.00[ASN][1000 genomes]
rs754364	1.00[ASN][1000 genomes]
rs754365	1.00[ASN][1000 genomes]
rs754367	1.00[ASN][1000 genomes]
rs8101046	0.85[AFR][1000 genomes];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:5 , 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
5	nsv828563	chr19:45594591-45598168	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1982077	EIF5AP3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45594000-45598200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:45594200-45598200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr19:45594400-45598200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:45594400-45599200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:45596600-45598400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr19:45596800-45598200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:45596800-45598200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr19:45596800-45598200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr19:45596800-45598400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr19:45597000-45598000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr19:45597000-45598000	Flanking Active TSS	Dnd41	blood
12	chr19:45597000-45598200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:45597000-45598200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr19:45597000-45598200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:45597000-45598200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:45597000-45598200	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr19:45597000-45598200	Flanking Active TSS	Colonic Mucosa	Colon
18	chr19:45597000-45598200	Flanking Active TSS	Hela-S3	cervix
19	chr19:45597000-45598200	Flanking Active TSS	NHEK	skin
20	chr19:45597000-45598200	Flanking Active TSS	Osteobl	bone
21	chr19:45597000-45598400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:45597000-45598400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:45597000-45598400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:45597000-45598400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr19:45597000-45598400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr19:45597000-45598400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr19:45597000-45598400	Flanking Active TSS	Fetal Brain Female	brain
28	chr19:45597000-45598400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr19:45597000-45598800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:45597200-45598000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:45597200-45598000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr19:45597200-45598200	Enhancers	Small Intestine	intestine
33	chr19:45597200-45598400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr19:45597200-45599800	Enhancers	Spleen	Spleen
35	chr19:45597200-45600600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr19:45597400-45598000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:45597400-45598200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:45597400-45598200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr19:45597400-45598200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:45597400-45598200	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr19:45597400-45598400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr19:45597400-45598400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr19:45597400-45598600	Enhancers	Brain Substantia Nigra	brain
44	chr19:45597400-45598600	Enhancers	Ovary	ovary
45	chr19:45597400-45599200	Enhancers	Primary B cells from cord blood	blood
46	chr19:45597400-45599200	Enhancers	Primary B cells from peripheral blood	blood
47	chr19:45597400-45599600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:45597400-45599800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:45597400-45599800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:45597400-45599800	Enhancers	Fetal Heart	heart

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