Variant report

Variant	rs72731532
Chromosome Location	chr14:69234935-69234936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69228047..69235545-chr14:69258153..69263182,8	K562	blood:
2	chr14:69232699..69236940-chr14:69253332..69256719,3	K562	blood:
3	chr14:69196911..69199506-chr14:69233921..69236013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12147199	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12148044	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17757282	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164627	0.84[AMR][1000 genomes]
rs55814645	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55885232	0.84[AMR][1000 genomes]
rs56020080	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56082161	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095181	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56119720	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56232028	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58638884	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731526	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731527	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731529	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731531	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731534	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731535	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731537	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731538	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731539	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731544	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731547	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731549	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731550	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731551	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731554	0.84[EUR][1000 genomes]
rs72731564	0.84[AMR][1000 genomes]
rs72731565	0.84[AMR][1000 genomes]
rs735292	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013475	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69222600-69235600	Enhancers	Ovary	ovary
2	chr14:69224800-69237200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:69225000-69237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:69225200-69237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:69225800-69237800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
7	chr14:69230000-69237400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:69230200-69245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:69230400-69237400	Weak transcription	Gastric	stomach
10	chr14:69230400-69237400	Weak transcription	Right Ventricle	heart
11	chr14:69230400-69237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:69230800-69237000	Weak transcription	Left Ventricle	heart
13	chr14:69230800-69237800	Weak transcription	Right Atrium	heart
14	chr14:69230800-69241000	Weak transcription	HSMMtube	muscle
15	chr14:69231600-69242200	Weak transcription	Stomach Mucosa	stomach
16	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart
17	chr14:69231800-69237200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:69232000-69235000	Weak transcription	Fetal Thymus	thymus
19	chr14:69232400-69237200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:69232400-69237200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:69232400-69237400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:69232600-69236800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:69232600-69236800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:69232600-69237200	Weak transcription	Primary T cells from cord blood	blood
25	chr14:69232800-69237200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:69233400-69247000	Weak transcription	Liver	Liver
27	chr14:69233600-69236400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:69233600-69243200	Weak transcription	Pancreas	Pancrea
29	chr14:69233800-69241800	Weak transcription	Fetal Intestine Small	intestine
30	chr14:69234000-69235600	Enhancers	Placenta	Placenta
31	chr14:69234000-69237600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:69234200-69235000	Enhancers	Fetal Muscle Leg	muscle
33	chr14:69234400-69235000	Enhancers	Primary hematopoietic stem cells	blood
34	chr14:69234400-69235000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:69234400-69235400	Weak transcription	Spleen	Spleen
36	chr14:69234400-69241000	Weak transcription	HepG2	liver
37	chr14:69234600-69235200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:69234600-69235400	Enhancers	Lung	lung
39	chr14:69234800-69235200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:69234800-69236600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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