Variant report

Variant	rs56280775
Chromosome Location	chr14:56719565-56719566
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56684044..56686281-chr14:56718525..56720474,2	K562	blood:
2	chr14:56718359..56720116-chr16:4229533..4231576,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10483657	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17690981	0.86[EUR][1000 genomes]
rs17691274	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17832621	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs242397	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs242399	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs242403	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs242404	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs242408	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs242409	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs242411	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs242412	0.80[ASN][1000 genomes]
rs3783655	0.82[ASN][1000 genomes]
rs3783673	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3783677	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783682	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783683	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3825619	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55724547	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55764336	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56091865	0.86[EUR][1000 genomes]
rs56387985	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56401225	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs57405940	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58069847	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72714350	0.82[ASN][1000 genomes]
rs72717977	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72717992	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56693200-56724400	Weak transcription	Gastric	stomach
2	chr14:56694000-56723000	Weak transcription	Lung	lung
3	chr14:56711200-56720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:56711200-56724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:56711600-56724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:56715600-56720000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:56715800-56723200	Weak transcription	Fetal Brain Female	brain
8	chr14:56716600-56737800	Weak transcription	Aorta	Aorta
9	chr14:56717800-56719800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:56717800-56722000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:56717800-56724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:56717800-56737800	Weak transcription	Thymus	Thymus
13	chr14:56717800-56749600	Weak transcription	Fetal Thymus	thymus
14	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:56718000-56720400	Weak transcription	Fetal Stomach	stomach
16	chr14:56718000-56720800	Weak transcription	Fetal Intestine Large	intestine
17	chr14:56718000-56720800	Weak transcription	Fetal Intestine Small	intestine
18	chr14:56718200-56720600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:56718200-56724400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:56718400-56721200	Weak transcription	Primary T cells from cord blood	blood
21	chr14:56718400-56722800	Weak transcription	Pancreas	Pancrea
22	chr14:56718400-56723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:56718400-56755800	Weak transcription	Ovary	ovary
24	chr14:56718600-56735200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:56718800-56751400	Weak transcription	Primary B cells from cord blood	blood
26	chr14:56719000-56723600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:56719400-56723200	Weak transcription	Dnd41	blood

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