Variant report

Variant	rs8017630
Chromosome Location	chr14:21817859-21817860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21814371..21817924-chr14:21819365..21822480,4	K562	blood:
2	chr14:21802656..21804899-chr14:21816429..21817981,2	K562	blood:
3	chr14:21727359..21730774-chr14:21816654..21820383,4	K562	blood:
4	chr14:21812370..21815159-chr14:21817089..21819526,2	MCF-7	breast:
5	chr14:21817179..21819703-chr14:21826063..21828409,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092201	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1008268	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1008269	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10132333	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10134108	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10135022	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10137743	0.83[AMR][1000 genomes]
rs10138699	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10139379	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10142205	0.81[ASN][1000 genomes]
rs10143061	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10146717	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10150329	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10151764	0.87[AMR][1000 genomes]
rs10438064	0.86[ASN][1000 genomes]
rs10438065	0.86[ASN][1000 genomes]
rs10438066	0.86[ASN][1000 genomes]
rs1045842	0.80[AMR][1000 genomes]
rs10782384	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11623599	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11623642	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11623737	0.85[AMR][1000 genomes]
rs11624716	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12885503	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1543494	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1952554	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1983768	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1998330	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1998331	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1998332	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1999139	0.80[AMR][1000 genomes]
rs2007434	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2065096	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2146062	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2149749	0.81[AMR][1000 genomes]
rs2181125	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2295865	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295866	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3762156	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3762157	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3762158	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3762159	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4144189	0.83[AMR][1000 genomes]
rs4246991	0.83[AMR][1000 genomes]
rs4982445	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4982446	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58685090	0.83[ASN][1000 genomes]
rs61695584	0.86[ASN][1000 genomes]
rs6571770	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571797	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6571826	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7145002	0.80[AMR][1000 genomes]
rs7147024	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7148741	0.83[ASN][1000 genomes]
rs7152833	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155123	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7160488	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8004294	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8004388	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8007893	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8008670	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8009789	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8011945	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8017451	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018369	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8020149	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8022395	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8022755	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs927412	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	18 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
rs8017630	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21803600-21820200	Weak transcription	K562	blood
2	chr14:21809200-21819800	Weak transcription	Fetal Intestine Small	intestine
3	chr14:21809800-21819200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:21811200-21819200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:21811400-21818800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:21811400-21819000	Weak transcription	Primary T cells from cord blood	blood
7	chr14:21811400-21819000	Weak transcription	Dnd41	blood
8	chr14:21811400-21819200	Weak transcription	Osteobl	bone
9	chr14:21811600-21818600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:21811600-21819000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:21811600-21819000	Weak transcription	HepG2	liver
12	chr14:21811600-21820000	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:21811800-21818800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:21811800-21818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:21811800-21820200	Weak transcription	Gastric	stomach
16	chr14:21812000-21819000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:21812200-21818800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:21815000-21819200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:21815000-21819800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:21815400-21819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:21815600-21819000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:21815600-21819000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:21815600-21819000	Weak transcription	NHDF-Ad	bronchial
24	chr14:21815600-21819200	Weak transcription	NHLF	lung
25	chr14:21815600-21820200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:21815800-21818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:21815800-21818800	Weak transcription	Left Ventricle	heart
28	chr14:21815800-21819000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:21816000-21818800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:21816000-21818800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:21816000-21818800	Weak transcription	Liver	Liver
32	chr14:21816000-21818800	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:21816000-21818800	Weak transcription	HSMM	muscle
34	chr14:21816000-21819000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:21816200-21818000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:21816200-21818800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:21816200-21818800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:21816400-21818000	Weak transcription	A549	lung
39	chr14:21816400-21818600	Weak transcription	HMEC	breast
40	chr14:21816400-21818800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:21816400-21818800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:21816400-21818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:21816400-21818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:21816400-21818800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:21816400-21820800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:21816600-21818200	Weak transcription	Fetal Brain Female	brain
47	chr14:21816600-21818800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:21816600-21819000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:21816600-21819000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:21816600-21819200	Weak transcription	Brain Cingulate Gyrus	brain

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