Variant report

Variant	rs28712711
Chromosome Location	chr14:56764505-56764506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10144612	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483656	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12147737	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1427556	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17688725	0.82[EUR][1000 genomes]
rs17688801	0.82[EUR][1000 genomes]
rs17689278	0.83[EUR][1000 genomes]
rs17762499	0.85[EUR][1000 genomes]
rs17762733	0.84[EUR][1000 genomes]
rs17769788	0.95[EUR][1000 genomes]
rs17832675	0.89[EUR][1000 genomes]
rs1951955	0.80[EUR][1000 genomes]
rs2035283	0.86[EUR][1000 genomes]
rs2343376	0.83[EUR][1000 genomes]
rs2343604	0.95[EUR][1000 genomes]
rs2880615	0.81[EUR][1000 genomes]
rs3850298	0.84[EUR][1000 genomes]
rs3912203	0.82[EUR][1000 genomes]
rs4127813	0.81[EUR][1000 genomes]
rs58502917	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8020301	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs959459	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:56735800-56765800	Weak transcription	NHLF	lung
3	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
6	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:56747000-56765400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:56747000-56768600	Strong transcription	Dnd41	blood
9	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:56753200-56765400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
12	chr14:56753800-56765600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:56753800-56765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:56754400-56764800	Weak transcription	Colonic Mucosa	Colon
15	chr14:56754400-56765200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:56754400-56765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:56754600-56765000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:56754600-56765400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:56754600-56771200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:56755000-56767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:56755200-56769800	Strong transcription	Primary hematopoietic stem cells	blood
22	chr14:56755400-56764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:56755400-56770000	Weak transcription	Brain Substantia Nigra	brain
24	chr14:56755600-56764600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:56755600-56765200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:56755600-56765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:56755600-56765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:56755800-56765200	Weak transcription	Liver	Liver
29	chr14:56756400-56765400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:56757400-56765000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:56757400-56765400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:56757400-56765600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:56757400-56773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:56757600-56765000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:56757600-56767000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:56758400-56766000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:56758600-56770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:56758800-56765200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:56758800-56765800	Weak transcription	Aorta	Aorta
40	chr14:56758800-56766600	Weak transcription	Fetal Kidney	kidney
41	chr14:56758800-56772400	Weak transcription	Brain Germinal Matrix	brain
42	chr14:56759000-56777000	Weak transcription	Left Ventricle	heart
43	chr14:56760000-56766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:56760200-56766400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:56760800-56764800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:56760800-56765000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:56760800-56770800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:56761200-56765000	Strong transcription	Fetal Thymus	thymus
49	chr14:56762800-56766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:56763000-56765600	Weak transcription	Brain Anterior Caudate	brain

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