Variant report

Variant	rs72731531
Chromosome Location	chr14:69231723-69231724
allele	A/G
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	chr14:69230966..69233869-chr14:69245224..69248622,3	MCF-7	breast:
3	chr14:69224134..69226180-chr14:69230728..69233556,2	K562	blood:
4	chr14:69229565..69232248-chr14:69232416..69234037,2	K562	blood:
5	chr14:69225183..69228244-chr14:69230057..69231827,3	K562	blood:

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12148044	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17757282	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164627	0.87[AMR][1000 genomes]
rs55814645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55885232	0.87[AMR][1000 genomes]
rs56020080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56082161	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095181	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56119720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56232028	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58638884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731526	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731527	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731529	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731532	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731534	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731535	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731537	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731538	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731549	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731550	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72731551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72731554	0.82[EUR][1000 genomes]
rs72731564	0.87[AMR][1000 genomes]
rs72731565	0.87[AMR][1000 genomes]
rs735292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013475	0.90[AMR][1000 genomes];0.95[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:38 , 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	chr14:69226000-69234400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:69227000-69233400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
9	chr14:69229000-69231800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr14:69230000-69237400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:69230200-69231800	Enhancers	K562	blood
12	chr14:69230200-69233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:69230200-69245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:69230400-69233000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:69230400-69237400	Weak transcription	Gastric	stomach
16	chr14:69230400-69237400	Weak transcription	Right Ventricle	heart
17	chr14:69230400-69237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:69230800-69232200	Weak transcription	Spleen	Spleen
19	chr14:69230800-69232400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:69230800-69232400	Weak transcription	Pancreas	Pancrea
21	chr14:69230800-69233000	Weak transcription	Fetal Intestine Large	intestine
22	chr14:69230800-69233000	Weak transcription	Fetal Intestine Small	intestine
23	chr14:69230800-69234000	Weak transcription	Placenta	Placenta
24	chr14:69230800-69237000	Weak transcription	Left Ventricle	heart
25	chr14:69230800-69237800	Weak transcription	Right Atrium	heart
26	chr14:69230800-69241000	Weak transcription	HSMMtube	muscle
27	chr14:69231000-69233400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:69231200-69231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:69231200-69232800	Weak transcription	Liver	Liver
30	chr14:69231200-69233200	Weak transcription	HepG2	liver
31	chr14:69231400-69232400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:69231400-69233600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr14:69231600-69231800	Enhancers	Lung	lung
34	chr14:69231600-69232000	Enhancers	Fetal Thymus	thymus
35	chr14:69231600-69232400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:69231600-69232600	Enhancers	Primary T cells from cord blood	blood
37	chr14:69231600-69242200	Weak transcription	Stomach Mucosa	stomach
38	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart

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