Variant report

Variant	rs56030127
Chromosome Location	chr14:65745495-65745496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr14:65745267-65745596	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:65745307-65745591	A549	lung:	n/a	n/a
3	CEBPB	chr14:65745258-65745666	MCF-7	breast:	n/a	n/a
4	FOXA1	chr14:65745036-65745595	HepG2	liver:	n/a	n/a
5	FOXA2	chr14:65745111-65745583	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:65744997-65745518	HepG2	liver:	n/a	n/a
7	FOXA1	chr14:65745314-65745550	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:65745065-65745654	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PTBP1P	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10135541	1.00[ASN][1000 genomes]
rs11844089	1.00[ASN][1000 genomes]
rs1270537	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1272725	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102714	1.00[ASN][1000 genomes]
rs2151756	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153482	1.00[ASN][1000 genomes]
rs4902378	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4902379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902384	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55714222	1.00[ASN][1000 genomes]
rs55759426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780087	1.00[ASN][1000 genomes]
rs55865853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888656	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55911819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55917158	1.00[ASN][1000 genomes]
rs55948453	1.00[ASN][1000 genomes]
rs56152095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158541	1.00[ASN][1000 genomes]
rs56348725	1.00[ASN][1000 genomes]
rs61987805	1.00[ASN][1000 genomes]
rs61987837	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987838	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988963	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61988964	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61988965	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61988967	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988970	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989027	1.00[ASN][1000 genomes]
rs61989030	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989032	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989036	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989057	1.00[ASN][1000 genomes]
rs61989059	1.00[ASN][1000 genomes]
rs61989961	1.00[ASN][1000 genomes]
rs61989962	1.00[ASN][1000 genomes]
rs61989963	1.00[ASN][1000 genomes]
rs61989964	1.00[ASN][1000 genomes]
rs61989969	1.00[ASN][1000 genomes]
rs61989970	1.00[ASN][1000 genomes]
rs61989971	1.00[ASN][1000 genomes]
rs61989973	1.00[ASN][1000 genomes]
rs61989974	1.00[ASN][1000 genomes]
rs61989975	1.00[ASN][1000 genomes]
rs61989977	1.00[ASN][1000 genomes]
rs61989993	1.00[ASN][1000 genomes]
rs61989998	1.00[ASN][1000 genomes]
rs61990000	1.00[ASN][1000 genomes]
rs6573606	1.00[ASN][1000 genomes]
rs7147344	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150782	1.00[ASN][1000 genomes]
rs7152470	0.83[EUR][1000 genomes]
rs7156029	1.00[ASN][1000 genomes]
rs7159582	1.00[ASN][1000 genomes]
rs7161058	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746835	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747540	1.00[ASN][1000 genomes]
rs8004507	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005892	1.00[ASN][1000 genomes]
rs8013585	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65727400-65749600	Weak transcription	Gastric	stomach
3	chr14:65735800-65748600	Weak transcription	GM12878-XiMat	blood
4	chr14:65736200-65748400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:65741600-65746800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:65742400-65747000	Enhancers	Brain Hippocampus Middle	brain
7	chr14:65743400-65746800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:65743600-65746400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:65744000-65748600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:65744000-65748600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:65744000-65748600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:65744000-65748800	Weak transcription	HSMMtube	muscle
13	chr14:65744200-65745600	Enhancers	Stomach Mucosa	stomach
14	chr14:65744200-65748400	Weak transcription	NHDF-Ad	bronchial
15	chr14:65744200-65748600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:65744200-65748600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:65744200-65748600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:65744200-65748600	Weak transcription	Brain Angular Gyrus	brain
19	chr14:65744200-65748600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:65744200-65748600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:65744200-65748600	Weak transcription	A549	lung
22	chr14:65744200-65748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:65744200-65748800	Weak transcription	NHEK	skin
24	chr14:65744200-65749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:65744600-65748400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:65744600-65748600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:65744600-65748600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:65744600-65748800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:65744600-65748800	Weak transcription	HMEC	breast
30	chr14:65744800-65745600	Enhancers	HepG2	liver
31	chr14:65744800-65748600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:65744800-65748600	Weak transcription	Small Intestine	intestine
33	chr14:65745000-65746600	Weak transcription	Fetal Intestine Small	intestine
34	chr14:65745000-65748800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:65745400-65748600	Weak transcription	Brain Anterior Caudate	brain
36	chr14:65745400-65748600	Weak transcription	Brain Substantia Nigra	brain

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