Variant report

Variant	rs7151259
Chromosome Location	chr14:21946467-21946468
allele	C/T
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:11)
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	FOS	chr14:21946385-21946702	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:21946406-21946702	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:21946405-21946702	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:21946404-21946718	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr14:21946406-21946738	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21944743..21947528-chr14:21994092..21996767,2	MCF-7	breast:
2	chr14:21923260..21925455-chr14:21943748..21947334,4	K562	blood:
3	chr14:21943182..21946742-chr14:21976824..21981257,10	MCF-7	breast:
4	chr14:21922721..21925394-chr14:21943917..21947287,10	MCF-7	breast:
5	chr14:21903666..21907303-chr14:21944223..21946943,4	K562	blood:
6	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
7	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:
8	chr14:21945641..21947338-chr14:21977414..21979762,2	K562	blood:
9	chr14:21943699..21946735-chr14:21977733..21982256,4	MCF-7	breast:
10	chr14:21944239..21947571-chr14:21970430..21973821,4	MCF-7	breast:
11	chr14:21941797..21947093-chr14:21954513..21961521,11	MCF-7	breast:

No data

Variant related genes	Relation type
RAB2B	TF binding region
ENSG00000165821	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000165819	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	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142478	0.82[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143000	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1045842	0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs11156996	0.82[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.82[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263792	0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1263795	0.84[AMR][1000 genomes]
rs1263797	0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs1263798	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794219	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999139	0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs3762160	0.80[ASN][1000 genomes]
rs3762162	0.83[ASN][1000 genomes]
rs6571843	0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571844	0.86[ASN][1000 genomes]
rs6571845	0.85[ASN][1000 genomes]
rs6571856	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157961	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159433	0.92[AMR][1000 genomes];0.91[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
rs7151259	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21943800-21946600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:21943800-21946800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:21943800-21946800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:21943800-21946800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:21944000-21946800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr14:21944200-21946600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:21944200-21946600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:21944200-21946600	Active TSS	Fetal Intestine Small	intestine
9	chr14:21944200-21946600	Active TSS	Fetal Kidney	kidney
10	chr14:21944200-21946800	Active TSS	HMEC	breast
11	chr14:21944200-21946800	Active TSS	NHDF-Ad	bronchial
12	chr14:21944200-21946800	Active TSS	NHLF	lung
13	chr14:21944200-21947000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:21944400-21946600	Active TSS	Aorta	Aorta
15	chr14:21944400-21946600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:21944400-21946800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:21944400-21946800	Active TSS	GM12878-XiMat	blood
18	chr14:21944400-21947000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:21944800-21946600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:21945400-21946600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr14:21945600-21946600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr14:21945600-21946800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr14:21945800-21946600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr14:21945800-21946600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr14:21945800-21946600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr14:21945800-21946600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:21945800-21946800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr14:21945800-21946800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr14:21945800-21946800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr14:21945800-21946800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr14:21945800-21946800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:21945800-21946800	Flanking Active TSS	Osteobl	bone
33	chr14:21945800-21947000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:21946000-21946600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:21946000-21946600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:21946000-21946600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:21946000-21946600	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr14:21946000-21946600	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr14:21946000-21946600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr14:21946000-21946600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:21946000-21946600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr14:21946000-21946600	Flanking Active TSS	Fetal Brain Female	brain
43	chr14:21946000-21946600	Flanking Active TSS	Fetal Heart	heart
44	chr14:21946000-21946600	Flanking Active TSS	Fetal Stomach	stomach
45	chr14:21946000-21946600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr14:21946000-21946600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr14:21946000-21946600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:21946000-21946600	Enhancers	Spleen	Spleen
49	chr14:21946000-21946600	Flanking Active TSS	HUVEC	blood vessel
50	chr14:21946000-21946600	Flanking Active TSS	NH-A	brain

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