Variant report

Variant	rs10143000
Chromosome Location	chr14:21930596-21930597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21924456..21927951-chr14:21928618..21932822,6	K562	blood:
2	chr14:21929955..21932056-chr14:21939536..21941971,2	MCF-7	breast:
3	chr14:21927790..21931604-chr14:21933413..21935482,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10132333	0.83[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs10134108	0.82[MEX][hapmap]
rs10141933	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10142478	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10143061	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs10146717	0.82[MEX][hapmap]
rs1045842	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11156996	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11624716	0.82[MEX][hapmap]
rs1263788	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1263790	0.85[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1263792	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1263797	0.82[AMR][1000 genomes]
rs1263798	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1543494	0.82[MEX][hapmap]
rs1794219	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1998332	0.82[MEX][hapmap]
rs1999139	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3762158	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs3762159	0.82[MEX][hapmap]
rs3762162	0.94[GIH][hapmap];0.88[MEX][hapmap]
rs6571797	0.82[MEX][hapmap]
rs6571843	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6571844	0.81[AMR][1000 genomes]
rs6571845	0.94[GIH][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes]
rs6571856	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7151259	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7152833	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs7157961	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7159433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7160488	0.82[GIH][hapmap];0.82[MEX][hapmap]
rs8004388	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs8005163	0.94[GIH][hapmap];0.88[MEX][hapmap]
rs8008670	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs8009789	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs8013109	0.81[AMR][1000 genomes]
rs8022395	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs9322978	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10143000	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	chr14:21924800-21944600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21925000-21935600	Weak transcription	Fetal Brain Male	brain
3	chr14:21925000-21935800	Weak transcription	Fetal Heart	heart
4	chr14:21925000-21940400	Weak transcription	K562	blood
5	chr14:21925000-21943800	Weak transcription	HMEC	breast
6	chr14:21925000-21944000	Weak transcription	Stomach Mucosa	stomach
7	chr14:21925000-21944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:21925000-21944600	Weak transcription	Small Intestine	intestine
9	chr14:21925200-21931000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:21925200-21943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:21926200-21937800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:21926200-21939400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:21926400-21933000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:21926400-21937600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:21926800-21931600	Strong transcription	HSMM	muscle
16	chr14:21926800-21933600	Strong transcription	Brain Hippocampus Middle	brain
17	chr14:21926800-21937400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:21926800-21937800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:21926800-21937800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:21926800-21942000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:21927000-21931800	Strong transcription	Adipose Nuclei	Adipose
22	chr14:21927000-21932800	Strong transcription	NH-A	brain
23	chr14:21927000-21939000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:21927000-21942800	Strong transcription	Liver	Liver
25	chr14:21927200-21932400	Strong transcription	Fetal Thymus	thymus
26	chr14:21927200-21943400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:21927400-21932000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:21927400-21937200	Strong transcription	Placenta	Placenta
29	chr14:21927400-21937200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:21927400-21937400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:21927400-21937400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:21927400-21937800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:21927400-21938000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:21927400-21939000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:21927400-21943000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:21927600-21933200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:21927600-21933400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:21927600-21937400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:21927800-21930600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:21927800-21932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:21927800-21932200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:21927800-21937200	Strong transcription	Fetal Intestine Large	intestine
43	chr14:21927800-21937400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:21927800-21937600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:21927800-21942800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:21927800-21943400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:21928000-21932200	Strong transcription	Dnd41	blood
48	chr14:21928000-21932200	Strong transcription	HSMMtube	muscle
49	chr14:21928000-21933600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:21928000-21936600	Strong transcription	Colon Smooth Muscle	Colon

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