Variant report

Variant	rs72731551
Chromosome Location	chr14:69248855-69248856
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69247911..69250643-chr14:69303141..69305926,2	MCF-7	breast:
2	chr14:69239634..69241478-chr14:69247451..69250046,2	K562	blood:
3	chr14:69126667..69128513-chr14:69248793..69251052,2	MCF-7	breast:
4	chr14:68823758..68825352-chr14:69246991..69249510,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10139199	1.00[ASN][1000 genomes]
rs12147199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147461	1.00[ASN][1000 genomes]
rs12148044	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1274955	1.00[ASN][1000 genomes]
rs17757282	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1898320	1.00[ASN][1000 genomes]
rs194713	1.00[ASN][1000 genomes]
rs194743	1.00[ASN][1000 genomes]
rs2164627	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899260	1.00[ASN][1000 genomes]
rs4899262	1.00[ASN][1000 genomes]
rs4902649	1.00[ASN][1000 genomes]
rs4902652	1.00[ASN][1000 genomes]
rs55814645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55885232	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56020080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082161	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56095181	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56119720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232028	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58638884	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731526	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72731527	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72731529	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72731531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72731532	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731534	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731535	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731537	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731538	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731549	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731550	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731554	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731564	0.87[AMR][1000 genomes]
rs72731565	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72731567	1.00[ASN][1000 genomes]
rs72731576	1.00[ASN][1000 genomes]
rs72731577	1.00[ASN][1000 genomes]
rs72731579	1.00[ASN][1000 genomes]
rs72731581	1.00[ASN][1000 genomes]
rs735292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8013475	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8019383	1.00[ASN][1000 genomes]
rs971290	1.00[ASN][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	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
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69244200-69249600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:69244400-69252200	Enhancers	Fetal Intestine Small	intestine
3	chr14:69244400-69253200	Enhancers	Fetal Intestine Large	intestine
4	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
5	chr14:69244600-69249600	Enhancers	Fetal Heart	heart
6	chr14:69244600-69250000	Enhancers	Fetal Lung	lung
7	chr14:69244800-69249400	Enhancers	Colon Smooth Muscle	Colon
8	chr14:69245000-69249000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr14:69245000-69249600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr14:69245000-69249800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:69245200-69250200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr14:69245400-69249400	Enhancers	HUVEC	blood vessel
13	chr14:69245600-69250200	Enhancers	Pancreas	Pancrea
14	chr14:69245600-69253200	Enhancers	Fetal Thymus	thymus
15	chr14:69245800-69249000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:69245800-69249200	Enhancers	Right Ventricle	heart
17	chr14:69245800-69249600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:69245800-69249600	Enhancers	Left Ventricle	heart
19	chr14:69245800-69249600	Enhancers	Lung	lung
20	chr14:69245800-69249800	Enhancers	Placenta	Placenta
21	chr14:69246000-69249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:69246000-69249600	Enhancers	Small Intestine	intestine
23	chr14:69246200-69249400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr14:69246200-69249400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:69246200-69249600	Enhancers	Fetal Muscle Leg	muscle
26	chr14:69246200-69250000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr14:69246400-69249000	Enhancers	Fetal Kidney	kidney
28	chr14:69246400-69249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:69246400-69249400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr14:69246400-69249600	Enhancers	Fetal Stomach	stomach
31	chr14:69246400-69249800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:69246800-69249000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:69246800-69249600	Enhancers	Spleen	Spleen
34	chr14:69246800-69249600	Enhancers	Dnd41	blood
35	chr14:69246800-69250000	Enhancers	Right Atrium	heart
36	chr14:69247000-69249000	Enhancers	Primary B cells from peripheral blood	blood
37	chr14:69247000-69249600	Enhancers	Esophagus	oesophagus
38	chr14:69247000-69249800	Enhancers	Fetal Muscle Trunk	muscle
39	chr14:69247000-69252400	Enhancers	Liver	Liver
40	chr14:69247200-69249000	Enhancers	Brain Substantia Nigra	brain
41	chr14:69247400-69249400	Enhancers	Adipose Nuclei	Adipose
42	chr14:69247600-69249200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:69247600-69249200	Enhancers	NH-A	brain
44	chr14:69247600-69250200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:69247600-69250400	Enhancers	A549	lung
46	chr14:69247800-69249400	Enhancers	Stomach Smooth Muscle	stomach
47	chr14:69247800-69249600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:69247800-69251000	Weak transcription	GM12878-XiMat	blood
49	chr14:69248000-69249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:69248000-69249200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links