Variant report

Variant	rs72731544
Chromosome Location	chr14:69239971-69239972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69238784..69240441-chr14:69244509..69246381,2	K562	blood:
2	chr14:69208622..69210610-chr14:69239817..69242080,2	MCF-7	breast:
3	chr14:69237260..69240104-chr14:69243111..69244971,2	MCF-7	breast:
4	chr14:69239634..69241478-chr14:69247451..69250046,2	K562	blood:

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]
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: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:47 , 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	chr14:69230800-69241000	Weak transcription	HSMMtube	muscle
4	chr14:69231600-69242200	Weak transcription	Stomach Mucosa	stomach
5	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart
6	chr14:69233400-69247000	Weak transcription	Liver	Liver
7	chr14:69233600-69243200	Weak transcription	Pancreas	Pancrea
8	chr14:69233800-69241800	Weak transcription	Fetal Intestine Small	intestine
9	chr14:69234400-69241000	Weak transcription	HepG2	liver
10	chr14:69236400-69241000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:69236800-69240600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:69237000-69240000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:69237000-69241800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:69237000-69245800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:69237200-69240800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:69237400-69240800	Enhancers	Fetal Thymus	thymus
17	chr14:69237600-69240000	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:69237600-69240000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:69237600-69241000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:69237800-69240400	Enhancers	Thymus	Thymus
21	chr14:69238400-69243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:69238400-69246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:69238600-69240600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr14:69238600-69241000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:69238600-69243400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:69238600-69245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:69238800-69240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:69238800-69240400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:69238800-69241000	Enhancers	Primary T cells from cord blood	blood
30	chr14:69238800-69241400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:69238800-69241400	Weak transcription	Placenta	Placenta
32	chr14:69238800-69241800	Weak transcription	Spleen	Spleen
33	chr14:69238800-69243800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:69238800-69246400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:69239000-69240200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:69239000-69241400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:69239000-69241400	Weak transcription	NHEK	skin
38	chr14:69239000-69244800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:69239200-69240000	Enhancers	Left Ventricle	heart
40	chr14:69239400-69240400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:69239400-69243800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:69239600-69240000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr14:69239600-69241400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:69239600-69241400	Weak transcription	Adipose Nuclei	Adipose
45	chr14:69239800-69240000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr14:69239800-69240000	Enhancers	Right Atrium	heart
47	chr14:69239800-69241200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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