Variant report

Variant	rs2007434
Chromosome Location	chr14:21845549-21845550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21839767..21842102-chr14:21844201..21846958,2	K562	blood:
2	chr14:21735983..21738271-chr14:21843231..21846162,2	MCF-7	breast:
3	chr14:21843180..21848337-chr14:21848754..21853726,9	MCF-7	breast:
4	chr14:21820070..21822211-chr14:21844617..21847241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092199	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000260830	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1008268	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008269	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132333	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134108	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10135022	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137743	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10138699	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10139379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143061	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146717	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10150329	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151764	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1045842	0.82[AMR][1000 genomes]
rs10782384	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11623599	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11623642	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623737	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11624716	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12885503	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1543494	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1952554	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1983768	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1998330	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1998331	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1998332	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1999139	0.82[AMR][1000 genomes]
rs2065096	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2146062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149749	0.83[AMR][1000 genomes]
rs2181125	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295865	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295866	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3762156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762157	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762159	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4144189	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4246991	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4982445	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982446	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571770	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571797	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571826	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7147024	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7148741	0.94[ASN][1000 genomes]
rs7152833	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155123	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7160488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004294	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8004388	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007893	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011945	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8017451	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8017630	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022395	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927412	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
17	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
18	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2007434	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21818000-21848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:21818000-21849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21818800-21846800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:21818800-21848200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:21819000-21846200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:21819000-21846600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:21819000-21847200	Strong transcription	HepG2	liver
8	chr14:21819000-21847600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:21819000-21848000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:21819600-21847600	Strong transcription	Hela-S3	cervix
11	chr14:21821200-21845600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:21821400-21846800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:21824400-21851000	Weak transcription	Stomach Mucosa	stomach
14	chr14:21836600-21851200	Weak transcription	Pancreas	Pancrea
15	chr14:21836600-21851400	Weak transcription	Gastric	stomach
16	chr14:21836600-21851400	Weak transcription	Spleen	Spleen
17	chr14:21836800-21851200	Weak transcription	Aorta	Aorta
18	chr14:21837200-21851200	Weak transcription	Small Intestine	intestine
19	chr14:21838000-21851200	Weak transcription	Lung	lung
20	chr14:21838200-21850200	Weak transcription	Fetal Heart	heart
21	chr14:21838400-21847400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:21838400-21848600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:21838400-21848800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:21838400-21849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:21838400-21850200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:21838600-21848600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:21838600-21849000	Weak transcription	Fetal Brain Male	brain
28	chr14:21838600-21850000	Weak transcription	Brain Substantia Nigra	brain
29	chr14:21839200-21851000	Weak transcription	Right Ventricle	heart
30	chr14:21839600-21845800	Weak transcription	Fetal Intestine Small	intestine
31	chr14:21839600-21845800	Weak transcription	Fetal Stomach	stomach
32	chr14:21839600-21847400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:21839600-21851000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:21839600-21851000	Weak transcription	Thymus	Thymus
35	chr14:21839600-21851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:21839600-21851200	Weak transcription	Esophagus	oesophagus
37	chr14:21839800-21849800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:21840200-21848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:21840200-21851000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:21840200-21851000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:21840400-21850200	Weak transcription	Brain Germinal Matrix	brain
42	chr14:21840400-21850600	Weak transcription	Fetal Kidney	kidney
43	chr14:21840600-21851200	Weak transcription	Colonic Mucosa	Colon
44	chr14:21840600-21851200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:21840800-21848000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:21840800-21848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:21840800-21849800	Weak transcription	Fetal Lung	lung
48	chr14:21840800-21850200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:21840800-21850200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:21840800-21850200	Weak transcription	Rectal Mucosa Donor 31	rectum

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