Variant report

Variant	rs56082161
Chromosome Location	chr14:69216424-69216425
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69211410..69213846-chr14:69215945..69218406,2	K562	blood:
2	chr14:69215425..69218916-chr14:69220182..69222789,4	K562	blood:
3	chr14:69210895..69217826-chr14:69255953..69264501,15	K562	blood:
4	chr14:69212479..69217981-chr14:69255953..69262357,9	K562	blood:
5	chr14:69206368..69210602-chr14:69212379..69216516,4	K562	blood:
6	chr14:69206574..69210602-chr14:69211879..69218026,8	K562	blood:
7	chr14:69214304..69216670-chr14:69253517..69255895,2	K562	blood:
8	chr14:69183888..69188009-chr14:69213725..69217312,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12147199	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12148044	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17757282	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814645	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56020080	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56095181	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56119720	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56232028	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58638884	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731526	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731527	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731529	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731531	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731532	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731534	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731535	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731537	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731538	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731539	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731544	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731547	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731549	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731550	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72731551	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs735292	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013475	0.82[AMR][1000 genomes];0.91[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	nsv523795	chr14:69216412-69219896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv456332	chr14:69216412-69230080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv564963	chr14:69216412-69230080	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69201200-69222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:69202800-69224600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:69204200-69219200	Weak transcription	Adipose Nuclei	Adipose
4	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:69213800-69216600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:69213800-69216800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:69213800-69217000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:69213800-69217000	Enhancers	Fetal Muscle Leg	muscle
9	chr14:69213800-69217000	Enhancers	Placenta	Placenta
10	chr14:69213800-69217200	Enhancers	Esophagus	oesophagus
11	chr14:69213800-69217200	Enhancers	Fetal Heart	heart
12	chr14:69213800-69217400	Enhancers	HepG2	liver
13	chr14:69213800-69217400	Enhancers	K562	blood
14	chr14:69213800-69217800	Enhancers	Colon Smooth Muscle	Colon
15	chr14:69214400-69221000	Weak transcription	Right Atrium	heart
16	chr14:69214600-69224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:69214800-69219800	Weak transcription	Fetal Lung	lung
18	chr14:69215400-69217400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:69215600-69216600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:69215600-69217000	Enhancers	Rectal Smooth Muscle	rectum
21	chr14:69215600-69222400	Weak transcription	Pancreas	Pancrea
22	chr14:69215800-69217400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:69215800-69221000	Weak transcription	Spleen	Spleen
24	chr14:69215800-69222400	Weak transcription	Right Ventricle	heart
25	chr14:69216000-69216600	Enhancers	HSMMtube	muscle
26	chr14:69216200-69216600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:69216200-69216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:69216200-69216800	Enhancers	Fetal Stomach	stomach
29	chr14:69216200-69217000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:69216200-69217000	Enhancers	Left Ventricle	heart
31	chr14:69216200-69217000	Enhancers	Lung	lung
32	chr14:69216400-69217000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:69216400-69217000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:69216400-69217000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:69216400-69217000	Enhancers	Fetal Intestine Small	intestine
36	chr14:69216400-69217000	Enhancers	Fetal Muscle Trunk	muscle
37	chr14:69216400-69219600	Weak transcription	Stomach Mucosa	stomach
38	chr14:69216400-69219800	Weak transcription	Fetal Kidney	kidney

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