Variant report

Variant	rs11623737
Chromosome Location	chr14:21864892-21864893
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21851767..21853944-chr14:21864069..21867044,2	K562	blood:

Variant related genes	Relation type
ENSG00000260830	Chromatin interaction
ENSG00000092201	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1008268	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1008269	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10132333	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10134108	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10135022	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10137743	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10138699	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139379	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10143061	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10146717	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10150329	0.96[ASN][1000 genomes]
rs10151764	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782384	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623642	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11624716	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12885503	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1543494	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1952554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1983768	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1998330	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1998331	0.88[ASN][1000 genomes]
rs1998332	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007434	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2065096	0.85[AMR][1000 genomes]
rs2146062	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2181125	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295865	0.82[AMR][1000 genomes]
rs2295866	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3762156	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3762157	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3762158	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3762159	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144189	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4246991	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4982445	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4982446	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571770	0.83[AMR][1000 genomes]
rs6571797	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571826	0.96[ASN][1000 genomes]
rs7147024	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148741	0.96[ASN][1000 genomes]
rs7152833	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7155123	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7160488	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8004294	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8004388	0.87[AMR][1000 genomes]
rs8007893	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8008670	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8009789	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8011945	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8017630	0.85[AMR][1000 genomes]
rs8018369	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8020149	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8022395	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8022755	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs927412	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
rs11623737	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21853000-21865000	Weak transcription	Stomach Mucosa	stomach
2	chr14:21853000-21868000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:21853200-21865400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:21853200-21884400	Strong transcription	NH-A	brain
5	chr14:21853200-21904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:21853400-21875800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:21853400-21876000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:21853400-21876200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:21853400-21876200	Strong transcription	Osteobl	bone
10	chr14:21853400-21876400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:21853400-21877800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:21853400-21879800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:21853400-21884200	Strong transcription	Colon Smooth Muscle	Colon
14	chr14:21853400-21884400	Strong transcription	Fetal Muscle Leg	muscle
15	chr14:21853400-21884800	Strong transcription	Fetal Brain Female	brain
16	chr14:21853400-21900000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:21853400-21900000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:21853400-21900000	Strong transcription	Adipose Nuclei	Adipose
19	chr14:21853400-21900000	Strong transcription	Placenta	Placenta
20	chr14:21853400-21900200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:21853400-21901800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:21853600-21876800	Strong transcription	Fetal Stomach	stomach
23	chr14:21853600-21884000	Strong transcription	Brain Substantia Nigra	brain
24	chr14:21853600-21884400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:21853600-21884400	Strong transcription	HSMM	muscle
26	chr14:21853600-21885000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr14:21853600-21885800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:21853600-21886800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:21853600-21888800	Strong transcription	Fetal Intestine Large	intestine
30	chr14:21853600-21897200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr14:21853600-21900000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:21853600-21900200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:21853600-21900200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:21853600-21901400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:21853600-21902000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:21853600-21903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:21853800-21884400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:21853800-21900000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:21853800-21900000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:21853800-21900200	Strong transcription	Fetal Thymus	thymus
41	chr14:21853800-21901400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:21854000-21873400	Strong transcription	Fetal Intestine Small	intestine
43	chr14:21854000-21885800	Strong transcription	HepG2	liver
44	chr14:21854000-21900200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:21854000-21904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:21854200-21884400	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr14:21854200-21885400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr14:21854400-21886400	Strong transcription	Dnd41	blood
49	chr14:21854400-21900000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:21854400-21900200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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