Variant report

Variant	rs17737822
Chromosome Location	chr14:55237857-55237858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55220923..55225208-chr14:55233261..55241446,8	K562	blood:
2	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
3	chr14:55234866..55237900-chr14:55238411..55240727,3	K562	blood:
4	chr14:55030063..55033521-chr14:55235230..55238189,3	MCF-7	breast:
5	chr14:54961305..54964249-chr14:55236211..55238274,2	MCF-7	breast:
6	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
7	chr14:55237445..55239866-chr14:55271701..55273428,2	K562	blood:
8	chr14:55235323..55237263-chr14:55237473..55239035,2	MCF-7	breast:
9	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:
10	chr14:55201940..55205634-chr14:55237647..55241617,3	MCF-7	breast:
11	chr14:55196610..55198817-chr14:55236965..55239044,2	K562	blood:
12	chr14:55039042..55042077-chr14:55236554..55240895,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10144632	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17127934	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60362659	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713436	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9323270	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55165800-55239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55202800-55239800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:55216800-55239800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:55217800-55239600	Weak transcription	Fetal Lung	lung
5	chr14:55219600-55239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:55220600-55240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:55222400-55240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:55224600-55239000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:55225200-55239800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:55225200-55240200	Weak transcription	Esophagus	oesophagus
11	chr14:55225800-55238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:55226000-55239000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:55226400-55238800	Weak transcription	A549	lung
14	chr14:55226400-55239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:55228200-55239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55228800-55239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:55229000-55240200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:55229400-55238400	Strong transcription	HSMM	muscle
19	chr14:55229800-55238400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:55229800-55239000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:55231000-55239800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:55231000-55240200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:55231200-55238600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:55231600-55239400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:55231800-55240200	Weak transcription	Ovary	ovary
26	chr14:55231800-55240400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
28	chr14:55232000-55238200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:55232000-55239000	Weak transcription	HMEC	breast
30	chr14:55232000-55239200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:55233200-55239600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:55233600-55238000	Strong transcription	HUVEC	blood vessel
33	chr14:55233800-55238000	Weak transcription	K562	blood
34	chr14:55233800-55239200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:55233800-55239800	Weak transcription	Spleen	Spleen
36	chr14:55234000-55239000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:55234200-55239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:55234200-55239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:55234400-55238400	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr14:55234400-55239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:55234400-55239200	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:55234600-55240200	Weak transcription	Gastric	stomach
43	chr14:55234800-55238000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:55235000-55238600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:55235000-55239400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:55235200-55239000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:55235200-55240400	Weak transcription	Colonic Mucosa	Colon
48	chr14:55235400-55238000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:55235400-55239600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:55235400-55239600	Weak transcription	Brain Anterior Caudate	brain

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