Variant report

Variant	rs72731547
Chromosome Location	chr14:69241939-69241940
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69222295..69225279-chr14:69240661..69244475,4	MCF-7	breast:
2	chr14:69240954..69243158-chr14:69243176..69244974,2	MCF-7	breast:
3	chr14:68933089..68935511-chr14:69240196..69242436,2	MCF-7	breast:
4	chr14:68715587..68718504-chr14:69240857..69243611,2	MCF-7	breast:
5	chr14:69208622..69210610-chr14:69239817..69242080,2	MCF-7	breast:

Extended variants
information (count: 50 )
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]
rs56119720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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]
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: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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
2	chr14:69230200-69245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:69231600-69242200	Weak transcription	Stomach Mucosa	stomach
4	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart
5	chr14:69233400-69247000	Weak transcription	Liver	Liver
6	chr14:69233600-69243200	Weak transcription	Pancreas	Pancrea
7	chr14:69237000-69245800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:69238400-69243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:69238400-69246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:69238600-69243400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:69238600-69245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:69238800-69243800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:69238800-69246400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:69239000-69244800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:69239400-69243800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:69240000-69242400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:69240000-69245200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr14:69240000-69245800	Weak transcription	Left Ventricle	heart
19	chr14:69240000-69247000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:69240000-69247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:69240400-69245800	Weak transcription	Thymus	Thymus
22	chr14:69240400-69248600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:69240600-69243000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:69240800-69242600	Weak transcription	Fetal Thymus	thymus
25	chr14:69241000-69242400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:69241000-69243400	Enhancers	HepG2	liver
27	chr14:69241200-69244400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69241400-69243400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr14:69241400-69243600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:69241600-69243600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr14:69241600-69243800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:69241600-69244800	Weak transcription	Primary T cells from cord blood	blood
33	chr14:69241600-69244800	Weak transcription	K562	blood
34	chr14:69241800-69242000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:69241800-69242400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:69241800-69242400	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr14:69241800-69242400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
38	chr14:69241800-69242400	ZNF genes & repeats	Spleen	Spleen
39	chr14:69241800-69242400	ZNF genes & repeats	HSMMtube	muscle
40	chr14:69241800-69242400	ZNF genes & repeats	NHDF-Ad	bronchial
41	chr14:69241800-69243600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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