Variant report

Variant	rs10483656
Chromosome Location	chr14:56741625-56741626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10144612	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12147737	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1427556	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17688725	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs17688801	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs17689278	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs17762499	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs17762733	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs17769788	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17832675	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs1951955	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs2035283	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2343376	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs2343604	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28712711	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2880615	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs3850298	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs3912203	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs4127813	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs58502917	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8020301	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs959459	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv976835	chr14:56740554-56746606	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:56717800-56749600	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	chr14:56731200-56747800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:56731400-56748000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:56733200-56744000	Weak transcription	Gastric	stomach
11	chr14:56733800-56746400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:56734000-56750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:56735200-56755200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:56735800-56741800	Weak transcription	Fetal Intestine Small	intestine
15	chr14:56735800-56750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:56735800-56751800	Weak transcription	Primary T cells from cord blood	blood
17	chr14:56735800-56765800	Weak transcription	NHLF	lung
18	chr14:56737400-56755800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:56738200-56741800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:56738200-56741800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:56738400-56741800	Enhancers	NHDF-Ad	bronchial
22	chr14:56738400-56742000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:56738800-56755800	Weak transcription	Lung	lung
24	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
25	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:56739000-56746800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:56739200-56741800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr14:56739200-56741800	Weak transcription	Pancreas	Pancrea
29	chr14:56739200-56742000	Enhancers	Osteobl	bone
30	chr14:56739400-56743000	Weak transcription	Thymus	Thymus
31	chr14:56740000-56756000	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:56740000-56757000	Weak transcription	Left Ventricle	heart
33	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
34	chr14:56740800-56742000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr14:56741000-56755800	Weak transcription	Fetal Stomach	stomach
36	chr14:56741400-56741800	Weak transcription	Aorta	Aorta
37	chr14:56741400-56756000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:56741400-56758200	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:56741600-56741800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:56741600-56755200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:56741600-56755200	Weak transcription	Fetal Intestine Large	intestine
42	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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