Variant report

Variant	rs59134492
Chromosome Location	chr14:105043139-105043140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105043060-105043210	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr14:105043051-105043176	K562	blood:	n/a	n/a
3	UBTF	chr14:105043058-105043168	K562	blood:	n/a	n/a
4	CTCF	chr14:105043080-105043230	BE2_C	brain:	n/a	n/a
5	CTCF	chr14:105043080-105043230	Caco-2	colon:	n/a	n/a
6	CTCF	chr14:105043060-105043210	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr14:105043000-105043150	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr14:105043027-105043187	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:105043030-105043196	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:105043000-105043150	RPTEC	kidney:	n/a	n/a
11	CTCF	chr14:105043039-105043172	A549	lung:	n/a	n/a
12	EP300	chr14:105043098-105043140	K562	blood:	n/a	n/a
13	CTCF	chr14:105042973-105043231	K562	blood:	n/a	n/a
14	CTCF	chr14:105043013-105043219	MCF-7	breast:	n/a	n/a
15	CTCF	chr14:105043020-105043170	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr14:105043080-105043230	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr14:105043003-105043196	Fibrobl	skin:	n/a	n/a
18	RCOR1	chr14:105043103-105043165	K562	blood:	n/a	n/a
19	CTCF	chr14:105043040-105043190	AoAF	blood vessel:	n/a	n/a
20	RAD21	chr14:105043036-105043193	K562	blood:	n/a	n/a
21	CTCF	chr14:105043023-105043172	Gliobla	brain:	n/a	n/a
22	CTCF	chr14:105043060-105043210	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr14:105043060-105043210	Caco-2	colon:	n/a	n/a
24	CTCF	chr14:105043059-105043159	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr14:105043020-105043170	NHEK	skin:	n/a	n/a
26	SMC3	chr14:105043057-105043172	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr14:105043020-105043170	A549	lung:	n/a	n/a
28	CTCF	chr14:105043013-105043201	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:105043061-105043151	MCF-7	breast:	n/a	n/a
30	MAZ	chr14:105042972-105043149	K562	blood:	n/a	n/a
31	CTCF	chr14:105043060-105043210	K562	blood:	n/a	n/a
32	CTCF	chr14:105042890-105043264	T-47D	breast:	n/a	n/a
33	CTCF	chr14:105043020-105043170	AG09319	gingival:	n/a	n/a
34	CTCF	chr14:105043000-105043150	NHEK	skin:	n/a	n/a
35	CTCF	chr14:105043100-105043250	HepG2	liver:	n/a	n/a
36	CTCF	chr14:105043040-105043190	WERI-Rb-1	eye:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105042988..105044600-chr14:105047915..105049629,2	K562	blood:
2	chr14:105034085..105038904-chr14:105041483..105045004,4	MCF-7	breast:
3	chr14:105042911..105043577-chr14:105105904..105106844,3	MCF-7	breast:
4	chr14:105040956..105044629-chr14:105045064..105049595,4	MCF-7	breast:
5	chr14:105035401..105038783-chr14:105042040..105045385,3	MCF-7	breast:

No data

Variant related genes	Relation type
C14orf180	TF binding region
ENSG00000184601	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10132249	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10150543	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58090319	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60735207	1.00[EUR][1000 genomes]
rs73359895	0.81[ASN][1000 genomes]
rs74087153	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826669	chr14:104554461-105065941	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1049810	chr14:104577600-105060539	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised 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	98 gene(s)	inside rSNPs	diseases
4	esv2761599	chr14:104789113-105067734	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042527	chr14:104968968-105052401	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542222	chr14:104968968-105052401	Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1051647	chr14:104983302-105153720	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
8	nsv542223	chr14:104983302-105153720	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
9	esv1816766	chr14:105007585-105126354	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv902371	chr14:105011436-105057102	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv902372	chr14:105011436-105200377	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
12	nsv902373	chr14:105012858-105078153	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv470676	chr14:105023512-105100021	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv456445	chr14:105023512-105170003	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
15	nsv566047	chr14:105023512-105170003	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
16	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
17	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	nsv1044032	chr14:105036464-105124567	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105033400-105046000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr14:105036600-105046200	Enhancers	Fetal Heart	heart
3	chr14:105038000-105044800	Enhancers	Fetal Muscle Leg	muscle
4	chr14:105038000-105051000	Enhancers	Fetal Intestine Large	intestine
5	chr14:105039400-105044000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:105039800-105046400	Bivalent Enhancer	Placenta	Placenta
7	chr14:105040200-105048200	Enhancers	Fetal Brain Male	brain
8	chr14:105040200-105049800	Enhancers	Fetal Lung	lung
9	chr14:105040200-105050000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr14:105040800-105043200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:105040800-105043200	Weak transcription	Left Ventricle	heart
12	chr14:105041000-105051200	Enhancers	Fetal Intestine Small	intestine
13	chr14:105041200-105043200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:105041200-105043800	Weak transcription	Right Atrium	heart
15	chr14:105041800-105046000	Enhancers	Right Ventricle	heart
16	chr14:105042000-105043600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:105042400-105045200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:105042600-105043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:105042600-105044400	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:105042600-105046200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr14:105042800-105043200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:105042800-105043200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:105042800-105043400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr14:105042800-105043400	Bivalent Enhancer	HepG2	liver
25	chr14:105042800-105044000	Enhancers	Ovary	ovary
26	chr14:105042800-105045200	Enhancers	Adipose Nuclei	Adipose
27	chr14:105042800-105045600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:105042800-105047800	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr14:105042800-105048400	Enhancers	Brain Germinal Matrix	brain
30	chr14:105042800-105049800	Enhancers	Liver	Liver
31	chr14:105043000-105043200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:105043000-105043200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr14:105043000-105043400	Enhancers	Pancreas	Pancrea
34	chr14:105043000-105043400	Enhancers	A549	lung
35	chr14:105043000-105044000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:105043000-105044400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:105043000-105045000	Enhancers	K562	blood
38	chr14:105043000-105046400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr14:105043000-105047200	Enhancers	Fetal Brain Female	brain

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