Variant report

Variant	rs1965599
Chromosome Location	chr14:32674802-32674803
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	CEBPB	chr14:32674781-32675090	H1-hESC	embryonic stem cell:	n/a	chr14:32674944-32674955
2	CEBPB	chr14:32674762-32675129	IMR90	lung:	n/a	chr14:32674944-32674955
3	CEBPB	chr14:32674767-32675132	HepG2	liver:	n/a	chr14:32674944-32674955
4	CEBPB	chr14:32674689-32675174	MCF-7	breast:	n/a	chr14:32674944-32674955
5	CEBPB	chr14:32674760-32675136	K562	blood:	n/a	chr14:32674944-32674955
6	CEBPB	chr14:32674724-32675167	MCF-7	breast:	n/a	chr14:32674944-32674955
7	CEBPB	chr14:32674772-32675126	Hela-S3	cervix:	n/a	chr14:32674944-32674955
8	CEBPB	chr14:32674701-32675195	A549	lung:	n/a	chr14:32674944-32674955
9	CEBPB	chr14:32674780-32675146	A549	lung:	n/a	chr14:32674944-32674955

No.	Distal block	Cell Line	Cell type
1	chr14:32672713..32675385-chr14:32675596..32677310,2	MCF-7	breast:
2	chr14:32545768..32548128-chr14:32672317..32675290,2	MCF-7	breast:
3	chr14:32673261..32674882-chr14:32699450..32701140,2	MCF-7	breast:
4	chr14:32672725..32675021-chr14:32675763..32678202,4	K562	blood:

Variant related genes	Relation type
RNU6-8	TF binding region
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11622364	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11628544	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12590282	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590692	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17098557	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1887936	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34579438	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58425212	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59484466	0.83[AMR][1000 genomes]
rs61201256	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61994817	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61994818	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7149020	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158235	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32673400-32675200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:32673600-32675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:32673600-32675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:32673600-32675200	Weak transcription	Fetal Intestine Small	intestine
5	chr14:32673600-32675400	Weak transcription	Fetal Thymus	thymus
6	chr14:32673600-32675600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:32673600-32677400	Weak transcription	Small Intestine	intestine
8	chr14:32673600-32688200	Weak transcription	Left Ventricle	heart
9	chr14:32673600-32692800	Weak transcription	Psoas Muscle	Psoas
10	chr14:32673800-32675200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:32673800-32675200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:32673800-32675400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:32673800-32675400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:32673800-32679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:32673800-32682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:32673800-32682000	Weak transcription	NHEK	skin
17	chr14:32674000-32675000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:32674000-32675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:32674000-32675400	Weak transcription	Fetal Heart	heart
20	chr14:32674200-32675000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:32674200-32675000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:32674200-32675000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:32674200-32679400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:32674800-32675200	Flanking Active TSS	GM12878-XiMat	blood
25	chr14:32674800-32675400	Enhancers	HMEC	breast
26	chr14:32674800-32675800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:32674800-32675800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:32674800-32676000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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