Variant report

Variant	rs4983500
Chromosome Location	chr14:105045524-105045525
allele	A/G
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	ESR1	chr14:105045344-105046308	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105043748..105045529-chr14:105045590..105047216,2	MCF-7	breast:

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10132112	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12589619	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590185	1.00[ASW][hapmap]
rs12717694	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878336	0.82[EUR][1000 genomes]
rs12878589	1.00[CEU][hapmap]
rs12880814	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12884743	0.81[EUR][1000 genomes]
rs12888830	0.81[EUR][1000 genomes]
rs34024274	0.85[EUR][1000 genomes]
rs34058091	0.85[EUR][1000 genomes]
rs35246301	0.81[EUR][1000 genomes]
rs35527175	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4270105	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6576051	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7144467	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7151177	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788527	1.00[CEU][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 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
19	nsv902374	chr14:105045524-105119784	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv902375	chr14:105045524-105139894	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 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	chr14:105038000-105051000	Enhancers	Fetal Intestine Large	intestine
4	chr14:105039800-105046400	Bivalent Enhancer	Placenta	Placenta
5	chr14:105040200-105048200	Enhancers	Fetal Brain Male	brain
6	chr14:105040200-105049800	Enhancers	Fetal Lung	lung
7	chr14:105040200-105050000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr14:105041000-105051200	Enhancers	Fetal Intestine Small	intestine
9	chr14:105041800-105046000	Enhancers	Right Ventricle	heart
10	chr14:105042600-105046200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr14:105042800-105045600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:105042800-105047800	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr14:105042800-105048400	Enhancers	Brain Germinal Matrix	brain
14	chr14:105042800-105049800	Enhancers	Liver	Liver
15	chr14:105043000-105046400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr14:105043000-105047200	Enhancers	Fetal Brain Female	brain
17	chr14:105043200-105046000	Enhancers	Left Ventricle	heart
18	chr14:105043200-105046800	Weak transcription	Spleen	Spleen
19	chr14:105043200-105049400	Enhancers	Gastric	stomach
20	chr14:105043400-105049600	Enhancers	Psoas Muscle	Psoas
21	chr14:105043800-105046000	Enhancers	Right Atrium	heart
22	chr14:105044000-105047600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:105044400-105045600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr14:105044400-105047400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:105044800-105045600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:105044800-105053600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:105045000-105046200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr14:105045000-105047800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:105045000-105048400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr14:105045000-105048400	Weak transcription	K562	blood
31	chr14:105045200-105046000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr14:105045200-105046200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:105045200-105046600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:105045200-105046600	Enhancers	Pancreas	Pancrea
35	chr14:105045200-105050000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr14:105045400-105045600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:105045400-105045600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr14:105045400-105045600	Flanking Active TSS	Colonic Mucosa	Colon
39	chr14:105045400-105046000	Enhancers	Fetal Muscle Leg	muscle
40	chr14:105045400-105046400	Enhancers	Brain Anterior Caudate	brain
41	chr14:105045400-105046600	Bivalent Enhancer	HSMMtube	muscle
42	chr14:105045400-105049000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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