Variant report

Variant	rs4982445
Chromosome Location	chr14:21838781-21838782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21824988..21827546-chr14:21837223..21839155,2	K562	blood:
2	chr14:21836067..21840182-chr14:21848186..21853359,8	MCF-7	breast:
3	chr14:21830992..21834452-chr14:21835235..21838821,3	MCF-7	breast:
4	chr14:21836694..21838844-chr14:21842730..21845321,2	MCF-7	breast:
5	chr14:21836286..21839834-chr14:21849552..21852683,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092201	Chromatin interaction
ENSG00000260830	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1008268	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008269	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134108	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10135022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137743	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10138699	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10139379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143061	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146717	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10150329	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151764	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1045842	0.86[AMR][1000 genomes]
rs10782384	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11623599	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11623642	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623737	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11624716	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12885503	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1543494	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1952554	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1983768	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1998330	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1998331	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1998332	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1999139	0.85[AMR][1000 genomes]
rs2007434	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065096	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2146062	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149749	0.87[AMR][1000 genomes]
rs2181125	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295865	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295866	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3762156	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762157	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762158	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762159	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4144189	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4246991	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4982446	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571797	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571826	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7145002	0.81[AMR][1000 genomes]
rs7147024	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7148741	0.94[ASN][1000 genomes]
rs7152833	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155123	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7160488	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004294	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8004388	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007893	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008670	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009789	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011945	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8017451	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8017630	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018369	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020149	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022395	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022755	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927412	0.97[AFR][1000 genomes];1.00[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
rs4982445	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21818000-21843000	Strong transcription	A549	lung
2	chr14:21818000-21848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:21818000-21849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21818200-21841200	Strong transcription	Fetal Brain Female	brain
5	chr14:21818600-21838800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:21818600-21841000	Strong transcription	HMEC	breast
7	chr14:21818600-21841200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:21818800-21839600	Strong transcription	Thymus	Thymus
9	chr14:21818800-21840600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr14:21818800-21840800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr14:21818800-21841000	Strong transcription	Brain Anterior Caudate	brain
12	chr14:21818800-21841200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:21818800-21841200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr14:21818800-21841200	Strong transcription	Left Ventricle	heart
15	chr14:21818800-21841400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:21818800-21841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:21818800-21841400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:21818800-21841400	Strong transcription	NHEK	skin
19	chr14:21818800-21841600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:21818800-21841600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:21818800-21841600	Strong transcription	Fetal Thymus	thymus
22	chr14:21818800-21841600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:21818800-21841600	Strong transcription	HSMM	muscle
24	chr14:21818800-21841800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr14:21818800-21841800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:21818800-21841800	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:21818800-21842800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:21818800-21843200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:21818800-21843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:21818800-21846800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:21818800-21848200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:21819000-21839800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:21819000-21840200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr14:21819000-21840800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:21819000-21841000	Strong transcription	NHDF-Ad	bronchial
36	chr14:21819000-21841200	Strong transcription	NH-A	brain
37	chr14:21819000-21841600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:21819000-21841600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:21819000-21841600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:21819000-21841600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:21819000-21841600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr14:21819000-21841600	Strong transcription	Placenta	Placenta
43	chr14:21819000-21842600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:21819000-21843400	Strong transcription	Primary T cells from cord blood	blood
45	chr14:21819000-21845400	Strong transcription	Dnd41	blood
46	chr14:21819000-21846200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:21819000-21846600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:21819000-21847200	Strong transcription	HepG2	liver
49	chr14:21819000-21847600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:21819000-21848000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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