Variant report

Variant	rs56307916
Chromosome Location	chr14:70346689-70346690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11158820	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332175	0.92[AFR][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70345600-70346800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:70345600-70347000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:70345600-70347200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:70345600-70347200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr14:70345600-70347400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr14:70345600-70347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:70345800-70346800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:70345800-70346800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:70345800-70346800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:70345800-70346800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:70345800-70346800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:70345800-70346800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:70345800-70347000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr14:70345800-70347000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:70345800-70347000	Active TSS	Brain Cingulate Gyrus	brain
16	chr14:70345800-70347000	Active TSS	Right Atrium	heart
17	chr14:70345800-70347000	Active TSS	Osteobl	bone
18	chr14:70345800-70347200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:70345800-70347200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:70345800-70347200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr14:70345800-70347400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:70345800-70347400	Active TSS	Brain Anterior Caudate	brain
23	chr14:70345800-70347400	Active TSS	Brain Substantia Nigra	brain
24	chr14:70345800-70347600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:70345800-70347600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr14:70345800-70347600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:70345800-70348000	Active TSS	Psoas Muscle	Psoas
28	chr14:70345800-70348800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:70345800-70349400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:70346000-70346800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr14:70346000-70346800	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr14:70346000-70346800	Flanking Active TSS	Pancreas	Pancrea
33	chr14:70346000-70347000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:70346000-70347000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:70346000-70347000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr14:70346000-70347000	Bivalent/Poised TSS	NHEK	skin
37	chr14:70346000-70347200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr14:70346000-70347200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:70346000-70347200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr14:70346000-70347200	Bivalent/Poised TSS	HepG2	liver
41	chr14:70346000-70347600	Active TSS	Liver	Liver
42	chr14:70346000-70347600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr14:70346000-70347800	Active TSS	Hela-S3	cervix
44	chr14:70346000-70348400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:70346000-70349600	Active TSS	Fetal Brain Female	brain
46	chr14:70346200-70346800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:70346200-70346800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr14:70346200-70346800	Active TSS	Aorta	Aorta
49	chr14:70346200-70346800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr14:70346200-70346800	Active TSS	Gastric	stomach

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