Variant report

Variant	rs72713436
Chromosome Location	chr14:55241559-55241560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
2	chr14:55118792..55121300-chr14:55238690..55241615,2	MCF-7	breast:
3	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
4	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
5	chr14:55191841..55194822-chr14:55240069..55241677,2	K562	blood:
6	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:
7	chr14:55201940..55205634-chr14:55237647..55241617,3	MCF-7	breast:

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	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17127934	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17737822	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60362659	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323270	0.89[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
2	chr14:55236600-55241800	Enhancers	Placenta	Placenta
3	chr14:55236600-55245400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr14:55237000-55241600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:55237200-55242800	Weak transcription	Fetal Brain Female	brain
6	chr14:55237600-55241800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
9	chr14:55239000-55244000	Enhancers	HMEC	breast
10	chr14:55239200-55241600	Weak transcription	Psoas Muscle	Psoas
11	chr14:55239600-55241800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:55239600-55243200	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:55240000-55243200	Enhancers	NH-A	brain
14	chr14:55240000-55244000	Genic enhancers	NHEK	skin
15	chr14:55240000-55244200	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr14:55240000-55250400	Strong transcription	HepG2	liver
17	chr14:55240200-55244400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:55240200-55244400	Genic enhancers	NHLF	lung
19	chr14:55240400-55242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:55240600-55241600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:55240600-55241600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:55240600-55241800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:55240600-55242000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:55240600-55242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:55240600-55243000	Weak transcription	Fetal Lung	lung
26	chr14:55240600-55243800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:55240600-55251200	Weak transcription	Gastric	stomach
28	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:55240800-55241600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:55240800-55241600	Weak transcription	Left Ventricle	heart
33	chr14:55240800-55241600	Weak transcription	Lung	lung
34	chr14:55240800-55241600	Weak transcription	HSMMtube	muscle
35	chr14:55240800-55241800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:55240800-55241800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:55240800-55241800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:55240800-55241800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:55240800-55241800	Enhancers	NHDF-Ad	bronchial
40	chr14:55240800-55242800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:55240800-55242800	Weak transcription	Aorta	Aorta
42	chr14:55240800-55242800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:55240800-55242800	Weak transcription	Fetal Thymus	thymus
44	chr14:55240800-55242800	Weak transcription	GM12878-XiMat	blood
45	chr14:55240800-55243000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:55240800-55243000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:55240800-55244200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:55240800-55245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
50	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus

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