Variant report

Variant	rs3825619
Chromosome Location	chr14:56737836-56737837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56735282..56738108-chr14:56741731..56743329,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10483657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171410	0.80[ASN][1000 genomes]
rs17690981	0.90[EUR][1000 genomes]
rs17691274	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17832621	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs242397	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs242399	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs242403	0.83[ASN][1000 genomes]
rs242404	0.83[ASN][1000 genomes]
rs242405	0.80[ASN][1000 genomes]
rs242408	0.84[ASN][1000 genomes]
rs242409	0.84[ASN][1000 genomes]
rs242411	0.84[ASN][1000 genomes]
rs242412	0.83[ASN][1000 genomes]
rs242415	0.80[ASN][1000 genomes]
rs242416	0.80[ASN][1000 genomes]
rs3783655	0.84[ASN][1000 genomes]
rs3783673	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3783677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783683	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55724547	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55764336	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56091865	0.90[EUR][1000 genomes]
rs56280775	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56387985	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56401225	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57405940	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58069847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714350	0.84[ASN][1000 genomes]
rs72717977	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72717992	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56717800-56749600	Weak transcription	Fetal Thymus	thymus
2	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:56718400-56755800	Weak transcription	Ovary	ovary
4	chr14:56718800-56751400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:56724600-56755200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:56725400-56746800	Weak transcription	Dnd41	blood
7	chr14:56725600-56742200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:56729200-56740600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:56731200-56747800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:56731400-56748000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:56733200-56744000	Weak transcription	Gastric	stomach
12	chr14:56733800-56746400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr14:56734000-56750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:56734800-56738400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:56734800-56740800	Weak transcription	Esophagus	oesophagus
16	chr14:56735000-56738400	Weak transcription	Left Ventricle	heart
17	chr14:56735200-56755200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:56735400-56741200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:56735600-56738200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:56735800-56741800	Weak transcription	Fetal Intestine Small	intestine
21	chr14:56735800-56750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:56735800-56751800	Weak transcription	Primary T cells from cord blood	blood
23	chr14:56735800-56765800	Weak transcription	NHLF	lung
24	chr14:56736000-56738000	Weak transcription	Osteobl	bone
25	chr14:56736000-56738400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:56736000-56738400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:56736200-56738400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:56736200-56738400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:56736200-56738400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:56736200-56738400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:56736200-56738400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:56737400-56755800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:56737600-56738400	Enhancers	HSMMtube	muscle
34	chr14:56737600-56738400	Enhancers	HUVEC	blood vessel
35	chr14:56737800-56738800	Enhancers	Aorta	Aorta
36	chr14:56737800-56738800	Enhancers	Lung	lung
37	chr14:56737800-56739200	Enhancers	Brain Cingulate Gyrus	brain
38	chr14:56737800-56739200	Enhancers	Pancreas	Pancrea
39	chr14:56737800-56739400	Strong transcription	Thymus	Thymus
40	chr14:56737800-56740200	Enhancers	NH-A	brain

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