Variant report

Variant	rs56119720
Chromosome Location	chr14:69247480-69247481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69171540..69174510-chr14:69246055..69248533,2	MCF-7	breast:
2	chr14:69239634..69241478-chr14:69247451..69250046,2	K562	blood:
3	chr14:69124488..69126263-chr14:69245986..69248780,2	MCF-7	breast:
4	chr14:69236522..69239167-chr14:69246700..69248394,2	K562	blood:
5	chr14:68823758..68825352-chr14:69246991..69249510,2	MCF-7	breast:
6	chr14:69230966..69233869-chr14:69245224..69248622,3	MCF-7	breast:
7	chr14:68606423..68608591-chr14:69246118..69247661,2	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];0.97[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];0.92[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];0.80[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];0.97[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082161	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56095181	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56232028	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58638884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731526	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731527	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731529	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731532	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731534	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731535	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731537	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731538	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731550	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731554	0.85[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];0.97[EUR][1000 genomes]
rs8013475	0.90[AMR][1000 genomes];0.99[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69240000-69247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:69240400-69248600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:69244200-69249600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:69244400-69248600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:69244400-69248600	Enhancers	HSMMtube	muscle
6	chr14:69244400-69248600	Enhancers	NHLF	lung
7	chr14:69244400-69252200	Enhancers	Fetal Intestine Small	intestine
8	chr14:69244400-69253200	Enhancers	Fetal Intestine Large	intestine
9	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
10	chr14:69244600-69249600	Enhancers	Fetal Heart	heart
11	chr14:69244600-69250000	Enhancers	Fetal Lung	lung
12	chr14:69244800-69249400	Enhancers	Colon Smooth Muscle	Colon
13	chr14:69245000-69249000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr14:69245000-69249600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr14:69245000-69249800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:69245200-69250200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:69245400-69249400	Enhancers	HUVEC	blood vessel
18	chr14:69245600-69248400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:69245600-69248400	Enhancers	Psoas Muscle	Psoas
20	chr14:69245600-69248400	Enhancers	HMEC	breast
21	chr14:69245600-69250200	Enhancers	Pancreas	Pancrea
22	chr14:69245600-69253200	Enhancers	Fetal Thymus	thymus
23	chr14:69245800-69247800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:69245800-69248400	Enhancers	Brain Anterior Caudate	brain
25	chr14:69245800-69248600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:69245800-69249000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:69245800-69249200	Enhancers	Right Ventricle	heart
28	chr14:69245800-69249600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:69245800-69249600	Enhancers	Left Ventricle	heart
30	chr14:69245800-69249600	Enhancers	Lung	lung
31	chr14:69245800-69249800	Enhancers	Placenta	Placenta
32	chr14:69246000-69248200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:69246000-69248200	Weak transcription	Ovary	ovary
34	chr14:69246000-69248600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:69246000-69248800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr14:69246000-69249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:69246000-69249600	Enhancers	Small Intestine	intestine
38	chr14:69246200-69248400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:69246200-69248400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:69246200-69248600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:69246200-69249400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr14:69246200-69249400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:69246200-69249600	Enhancers	Fetal Muscle Leg	muscle
44	chr14:69246200-69250000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr14:69246400-69247600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:69246400-69247600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:69246400-69247600	Flanking Active TSS	A549	lung
48	chr14:69246400-69248000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr14:69246400-69248000	Flanking Active TSS	Thymus	Thymus
50	chr14:69246400-69248600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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