Variant report

Variant	rs72731527
Chromosome Location	chr14:69222504-69222505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69221254..69223368-chr14:69224399..69226935,2	MCF-7	breast:
2	chr14:69222295..69225279-chr14:69240661..69244475,4	MCF-7	breast:
3	chr14:69218627..69226949-chr14:69256316..69264627,15	K562	blood:
4	chr14:69218392..69222531-chr14:69227666..69230740,3	K562	blood:
5	chr14:69215425..69218916-chr14:69220182..69222789,4	K562	blood:

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]
rs72731529	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:42 , 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	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:69214600-69224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:69216600-69224200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:69217000-69222600	Weak transcription	Placenta	Placenta
7	chr14:69218600-69230800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:69218600-69231600	Enhancers	Fetal Heart	heart
9	chr14:69218800-69222800	Weak transcription	Lung	lung
10	chr14:69218800-69225600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:69218800-69230800	Enhancers	Fetal Intestine Small	intestine
12	chr14:69219200-69226000	Enhancers	Fetal Intestine Large	intestine
13	chr14:69219800-69223400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:69219800-69223600	Enhancers	Fetal Lung	lung
15	chr14:69219800-69225400	Enhancers	NHDF-Ad	bronchial
16	chr14:69220400-69226800	Enhancers	Fetal Kidney	kidney
17	chr14:69220800-69227400	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:69221200-69222800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:69221200-69223800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:69221200-69224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:69221200-69229200	Weak transcription	Osteobl	bone
22	chr14:69221400-69222600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:69221600-69222600	Weak transcription	Ovary	ovary
24	chr14:69221600-69223600	Weak transcription	Fetal Thymus	thymus
25	chr14:69221600-69223600	Weak transcription	Left Ventricle	heart
26	chr14:69221600-69223800	Weak transcription	Right Atrium	heart
27	chr14:69221600-69229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:69221600-69229600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:69221800-69222800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:69221800-69223800	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:69222000-69222600	Enhancers	HepG2	liver
32	chr14:69222000-69222800	Weak transcription	Spleen	Spleen
33	chr14:69222200-69225000	Enhancers	Fetal Stomach	stomach
34	chr14:69222200-69225200	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:69222400-69222600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:69222400-69222800	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr14:69222400-69223000	Enhancers	Right Ventricle	heart
38	chr14:69222400-69223200	Weak transcription	K562	blood
39	chr14:69222400-69224200	Enhancers	Pancreas	Pancrea
40	chr14:69222400-69225000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:69222400-69225200	Enhancers	Primary B cells from cord blood	blood
42	chr14:69222400-69226200	Enhancers	Stomach Mucosa	stomach

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