Variant report

Variant	rs1794219
Chromosome Location	chr14:21977673-21977674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr14:21977526-21978143	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr14:21977502-21977792	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:21977547-21977756	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:21977113-21977870	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:21977624-21977753	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
2	chr14:21943182..21946742-chr14:21976824..21981257,10	MCF-7	breast:
3	chr14:21924214..21926252-chr14:21977009..21978995,2	K562	blood:
4	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:
5	chr14:21921735..21926252-chr14:21977495..21980798,4	K562	blood:
6	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:
7	chr14:21953304..21957637-chr14:21977622..21980273,4	K562	blood:

No data

Variant related genes	Relation type
METTL3	TF binding region
ENSG00000100888	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000257096	Chromatin interaction
ENSG00000165821	Chromatin interaction
ENSG00000129472	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10141933	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142478	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143000	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1045842	0.91[EUR][1000 genomes]
rs11156996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263788	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263790	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263792	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1263795	0.84[AMR][1000 genomes]
rs1263797	1.00[ASN][1000 genomes]
rs1263798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999139	0.89[EUR][1000 genomes]
rs3762160	0.80[ASN][1000 genomes]
rs3762162	0.83[ASN][1000 genomes]
rs6571843	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571844	0.86[ASN][1000 genomes]
rs6571845	0.85[ASN][1000 genomes]
rs6571856	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151259	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157961	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159433	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005163	0.85[ASN][1000 genomes]
rs8013109	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1794219	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21947000-21978000	Weak transcription	Fetal Heart	heart
2	chr14:21964000-21977800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:21967800-21978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:21971800-21978000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:21971800-21978000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:21971800-21978200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:21971800-21978200	Weak transcription	Stomach Mucosa	stomach
8	chr14:21972000-21978000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:21972000-21978000	Weak transcription	NHDF-Ad	bronchial
10	chr14:21972000-21978200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:21972000-21978200	Weak transcription	Fetal Kidney	kidney
12	chr14:21972000-21978200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:21972000-21978200	Weak transcription	Right Ventricle	heart
14	chr14:21972000-21978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:21972000-21978600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:21972000-21978600	Weak transcription	Aorta	Aorta
17	chr14:21972000-21978600	Weak transcription	Esophagus	oesophagus
18	chr14:21972000-21978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:21972200-21978200	Weak transcription	Colonic Mucosa	Colon
20	chr14:21974800-21977800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:21975800-21977800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:21976000-21977800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:21976000-21978000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:21976200-21977800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:21976400-21977800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr14:21976400-21978000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:21976400-21978000	Weak transcription	HSMMtube	muscle
28	chr14:21976400-21978200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:21976400-21978200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:21976400-21978400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:21976400-21978600	Weak transcription	Lung	lung
32	chr14:21976600-21978000	Weak transcription	NHLF	lung
33	chr14:21976800-21978000	Weak transcription	Fetal Intestine Large	intestine
34	chr14:21976800-21978000	Weak transcription	Fetal Lung	lung
35	chr14:21976800-21978200	Weak transcription	Right Atrium	heart
36	chr14:21977000-21977800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:21977000-21978000	Weak transcription	NH-A	brain
38	chr14:21977000-21978200	Enhancers	Fetal Brain Male	brain
39	chr14:21977000-21978400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr14:21977200-21977800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:21977200-21977800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:21977200-21977800	Genic enhancers	Fetal Thymus	thymus
43	chr14:21977200-21977800	Genic enhancers	Left Ventricle	heart
44	chr14:21977200-21978000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:21977200-21978000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:21977200-21978000	Enhancers	Psoas Muscle	Psoas
47	chr14:21977200-21978200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:21977200-21978200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr14:21977200-21978200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:21977200-21978200	Enhancers	Liver	Liver

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