Variant report

Variant	rs72731529
Chromosome Location	chr14:69224441-69224442
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69224134..69226180-chr14:69230728..69233556,2	K562	blood:
2	chr14:69223323..69225875-chr14:69227870..69230054,2	K562	blood:
3	chr14:69222295..69225279-chr14:69240661..69244475,4	MCF-7	breast:
4	chr14:69207813..69210397-chr14:69223055..69224594,2	K562	blood:
5	chr14:69223818..69225694-chr14:69260222..69261758,2	MCF-7	breast:
6	chr14:69218627..69226949-chr14:69256316..69264627,15	K562	blood:
7	chr14:69223513..69226037-chr14:69236750..69239337,3	K562	blood:
8	chr14:69160612..69162460-chr14:69223212..69225685,2	K562	blood:
9	chr14:69217090..69220380-chr14:69222883..69225939,5	K562	blood:
10	chr14:69221254..69223368-chr14:69224399..69226935,2	MCF-7	breast:
11	chr14:69217466..69219911-chr14:69223716..69225939,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12147199	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12148044	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17757282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164627	0.81[AMR][1000 genomes]
rs55814645	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55885232	0.81[AMR][1000 genomes]
rs56020080	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56082161	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095181	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56119720	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56232028	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58638884	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731531	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731532	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731534	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731535	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731537	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731538	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731539	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731544	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731547	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731549	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731550	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72731551	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72731564	0.81[AMR][1000 genomes]
rs72731565	0.81[AMR][1000 genomes]
rs735292	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013475	0.85[AMR][1000 genomes];0.91[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	nsv456332	chr14:69216412-69230080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69202800-69224600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69214600-69224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:69218600-69230800	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69218600-69231600	Enhancers	Fetal Heart	heart
6	chr14:69218800-69225600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:69218800-69230800	Enhancers	Fetal Intestine Small	intestine
8	chr14:69219200-69226000	Enhancers	Fetal Intestine Large	intestine
9	chr14:69219800-69225400	Enhancers	NHDF-Ad	bronchial
10	chr14:69220400-69226800	Enhancers	Fetal Kidney	kidney
11	chr14:69220800-69227400	Enhancers	Fetal Muscle Trunk	muscle
12	chr14:69221200-69229200	Weak transcription	Osteobl	bone
13	chr14:69221600-69229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:69221600-69229600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:69222200-69225000	Enhancers	Fetal Stomach	stomach
16	chr14:69222200-69225200	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:69222400-69225000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:69222400-69225200	Enhancers	Primary B cells from cord blood	blood
19	chr14:69222400-69226200	Enhancers	Stomach Mucosa	stomach
20	chr14:69222600-69224600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:69222600-69224800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:69222600-69230200	Enhancers	Placenta	Placenta
23	chr14:69222600-69235600	Enhancers	Ovary	ovary
24	chr14:69222800-69225400	Enhancers	Liver	Liver
25	chr14:69222800-69225600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69222800-69225600	Enhancers	Spleen	Spleen
27	chr14:69222800-69225800	Enhancers	Lung	lung
28	chr14:69222800-69226200	Enhancers	Adipose Nuclei	Adipose
29	chr14:69222800-69227800	Enhancers	HSMMtube	muscle
30	chr14:69223000-69227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:69223200-69224800	Enhancers	K562	blood
32	chr14:69223200-69225800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:69223200-69226000	Enhancers	Primary hematopoietic stem cells	blood
34	chr14:69223200-69226200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:69223200-69230200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:69223400-69225000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr14:69223400-69226200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:69223400-69226400	Enhancers	Right Ventricle	heart
39	chr14:69223400-69227000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:69223400-69227800	Enhancers	HSMM	muscle
41	chr14:69223600-69224600	Enhancers	Esophagus	oesophagus
42	chr14:69223600-69225200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:69223600-69225600	Enhancers	Fetal Thymus	thymus
44	chr14:69223600-69225800	Enhancers	Left Ventricle	heart
45	chr14:69223800-69224800	Enhancers	Primary T cells from cord blood	blood
46	chr14:69223800-69224800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr14:69223800-69225000	Enhancers	Colon Smooth Muscle	Colon
48	chr14:69223800-69225400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr14:69223800-69225600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr14:69223800-69225600	Enhancers	Psoas Muscle	Psoas

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