Variant report

Variant	rs59453610
Chromosome Location	chr14:56164404-56164405
allele	G/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]
rs10135124	1.00[EUR][1000 genomes]
rs17128607	1.00[EUR][1000 genomes]
rs28505708	1.00[EUR][1000 genomes]
rs28625011	1.00[EUR][1000 genomes]
rs55996108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59412666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60593092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61376005	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73289560	1.00[EUR][1000 genomes]
rs74051604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051613	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
2	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
3	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
4	chr14:56147400-56170400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:56148000-56174000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:56148400-56165600	Weak transcription	NHDF-Ad	bronchial
7	chr14:56151200-56165800	Weak transcription	Hela-S3	cervix
8	chr14:56153000-56167800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:56153400-56174000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:56153600-56165200	Weak transcription	NH-A	brain
11	chr14:56153600-56165600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:56153600-56165600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:56153600-56165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:56153800-56165000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:56153800-56165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:56153800-56170600	Weak transcription	Fetal Stomach	stomach
17	chr14:56153800-56172000	Weak transcription	Esophagus	oesophagus
18	chr14:56153800-56172400	Weak transcription	Dnd41	blood
19	chr14:56153800-56173800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:56153800-56174000	Weak transcription	Brain Anterior Caudate	brain
21	chr14:56154000-56167800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:56154000-56172400	Weak transcription	Lung	lung
23	chr14:56154000-56173800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:56154000-56177800	Weak transcription	Left Ventricle	heart
25	chr14:56154000-56191000	Weak transcription	Aorta	Aorta
26	chr14:56154400-56177800	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:56154800-56165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:56154800-56174000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:56155600-56173600	Weak transcription	Primary T cells from cord blood	blood
30	chr14:56156600-56165600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:56157200-56165200	Weak transcription	NHEK	skin
32	chr14:56157400-56165600	Weak transcription	Osteobl	bone
33	chr14:56157600-56172400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:56157600-56178000	Weak transcription	Psoas Muscle	Psoas
35	chr14:56157600-56180000	Weak transcription	Primary B cells from cord blood	blood
36	chr14:56157800-56172200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:56158000-56165600	Weak transcription	HUVEC	blood vessel
38	chr14:56158400-56164600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:56159000-56167800	Weak transcription	GM12878-XiMat	blood
40	chr14:56162200-56165400	Enhancers	Fetal Intestine Small	intestine
41	chr14:56162200-56166000	Enhancers	Fetal Intestine Large	intestine
42	chr14:56162800-56174000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:56163200-56165400	Enhancers	Duodenum Mucosa	Duodenum
44	chr14:56163600-56165200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:56163800-56165000	Flanking Active TSS	A549	lung
46	chr14:56164000-56164800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:56164000-56165000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:56164000-56165000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr14:56164000-56165200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:56164000-56165800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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