Variant report

Variant	rs59662605
Chromosome Location	chr14:70486742-70486743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1005543	0.97[ASN][1000 genomes]
rs12436175	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107635	0.85[EUR][1000 genomes]
rs17107637	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1998334	0.80[ASN][1000 genomes]
rs2281663	0.98[ASN][1000 genomes]
rs60011612	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72728002	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729803	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729808	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010305	0.91[ASN][1000 genomes]
rs8016522	0.97[ASN][1000 genomes]
rs8019103	0.86[ASN][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70475800-70487200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
4	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70481600-70488200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:70482200-70488200	Weak transcription	HepG2	liver
7	chr14:70483600-70488800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:70484800-70488400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:70485600-70487200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:70485600-70491600	Weak transcription	Fetal Brain Female	brain
12	chr14:70485800-70487200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:70485800-70487200	Weak transcription	Gastric	stomach
14	chr14:70485800-70489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:70485800-70493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
17	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
18	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:70486000-70487000	Weak transcription	Liver	Liver
20	chr14:70486000-70487200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:70486000-70487200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:70486000-70487200	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:70486000-70487200	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:70486000-70487200	Weak transcription	Lung	lung
25	chr14:70486000-70487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:70486000-70487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:70486000-70487600	Weak transcription	Fetal Stomach	stomach
28	chr14:70486000-70487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70486000-70487800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:70486000-70488600	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:70486000-70488800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:70486000-70488800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
34	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
35	chr14:70486200-70488000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:70486200-70488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:70486200-70488800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr14:70486200-70489000	Weak transcription	NHEK	skin
39	chr14:70486400-70487200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:70486400-70487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:70486400-70487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:70486400-70487200	Weak transcription	Brain Anterior Caudate	brain
43	chr14:70486400-70487400	Weak transcription	Adipose Nuclei	Adipose
44	chr14:70486400-70487400	Weak transcription	Brain Angular Gyrus	brain
45	chr14:70486400-70489000	Weak transcription	HMEC	breast
46	chr14:70486400-70490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:70486400-70491600	Weak transcription	Spleen	Spleen
48	chr14:70486400-70491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:70486600-70487000	Weak transcription	Brain Substantia Nigra	brain

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