Variant report

Variant	rs1008268
Chromosome Location	chr14:21849932-21849933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21849809-21849962	Hela-S3	cervix:	n/a	n/a
2	FOS	chr14:21849915-21850117	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:21849881-21850478	MCF10A-Er-Src	breast:	n/a	chr14:21850450-21850459

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21848139..21850307-chr14:21923935..21925629,2	MCF-7	breast:
2	chr14:21791790..21795334-chr14:21849823..21853190,4	MCF-7	breast:
3	chr14:21683942..21686435-chr14:21849185..21850784,2	MCF-7	breast:
4	chr14:21848861..21852877-chr14:21854432..21859173,7	MCF-7	breast:
5	chr14:21720789..21724175-chr14:21848561..21851525,3	K562	blood:
6	chr14:21703629..21706503-chr14:21849764..21851749,2	MCF-7	breast:
7	chr14:21849377..21851145-chr14:21883237..21885715,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260830	TF binding region
ENSG00000100888	Chromatin interaction
ENSG00000092200	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1008269	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132333	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134108	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10135022	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137743	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10138699	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10139379	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143061	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146717	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10150329	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151764	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1045842	0.80[AMR][1000 genomes]
rs10782384	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11623599	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11623642	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623737	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11624716	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12885503	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1543494	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1952554	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1983768	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1998330	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1998331	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1998332	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1999139	0.80[AMR][1000 genomes]
rs2007434	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065096	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2146062	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149749	0.81[AMR][1000 genomes]
rs2181125	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295865	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295866	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3762156	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762157	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762158	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762159	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4144189	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4246991	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4982445	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982446	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571770	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571797	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571826	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7147024	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7148741	0.94[ASN][1000 genomes]
rs7152833	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155123	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7160488	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004294	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8004388	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8007893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008670	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009789	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011945	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8017451	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8017630	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018369	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020149	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022395	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022755	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927412	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
rs1008268	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21824400-21851000	Weak transcription	Stomach Mucosa	stomach
2	chr14:21836600-21851200	Weak transcription	Pancreas	Pancrea
3	chr14:21836600-21851400	Weak transcription	Gastric	stomach
4	chr14:21836600-21851400	Weak transcription	Spleen	Spleen
5	chr14:21836800-21851200	Weak transcription	Aorta	Aorta
6	chr14:21837200-21851200	Weak transcription	Small Intestine	intestine
7	chr14:21838000-21851200	Weak transcription	Lung	lung
8	chr14:21838200-21850200	Weak transcription	Fetal Heart	heart
9	chr14:21838400-21850200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:21838600-21850000	Weak transcription	Brain Substantia Nigra	brain
11	chr14:21839200-21851000	Weak transcription	Right Ventricle	heart
12	chr14:21839600-21851000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:21839600-21851000	Weak transcription	Thymus	Thymus
14	chr14:21839600-21851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:21839600-21851200	Weak transcription	Esophagus	oesophagus
16	chr14:21840200-21851000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:21840200-21851000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:21840400-21850200	Weak transcription	Brain Germinal Matrix	brain
19	chr14:21840400-21850600	Weak transcription	Fetal Kidney	kidney
20	chr14:21840600-21851200	Weak transcription	Colonic Mucosa	Colon
21	chr14:21840600-21851200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:21840800-21850200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:21840800-21850200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:21840800-21850200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:21840800-21851400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:21841000-21850000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:21841000-21850200	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:21841000-21850400	Weak transcription	HSMMtube	muscle
29	chr14:21841000-21850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:21841000-21850600	Weak transcription	Brain Anterior Caudate	brain
31	chr14:21841200-21850000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:21841200-21850200	Weak transcription	Liver	Liver
33	chr14:21841200-21850200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:21841200-21850400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:21841200-21850600	Weak transcription	Fetal Brain Female	brain
36	chr14:21841200-21851000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:21841400-21850600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:21841400-21851000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:21841400-21851000	Weak transcription	Psoas Muscle	Psoas
40	chr14:21841400-21851000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:21841600-21850000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:21841600-21850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:21841600-21850000	Weak transcription	Osteobl	bone
44	chr14:21841600-21850200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:21841600-21850200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:21841600-21850400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:21841600-21850400	Weak transcription	Adipose Nuclei	Adipose
48	chr14:21841600-21851000	Weak transcription	Brain Angular Gyrus	brain
49	chr14:21841600-21851000	Weak transcription	Placenta	Placenta
50	chr14:21841600-21851000	Weak transcription	Ovary	ovary

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