Variant report

Variant	rs72731538
Chromosome Location	chr14:69238263-69238264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69237219..69239248-chr14:69260234..69262402,3	MCF-7	breast:
2	chr14:69236522..69239167-chr14:69246700..69248394,2	K562	blood:
3	chr14:69235719..69238607-chr14:69258335..69259856,2	MCF-7	breast:
4	chr14:69193054..69195600-chr14:69237307..69239865,2	K562	blood:
5	chr14:69223513..69226037-chr14:69236750..69239337,3	K562	blood:
6	chr14:69227905..69229495-chr14:69237126..69238809,2	K562	blood:
7	chr14:69237260..69240104-chr14:69243111..69244971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12147199	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12148044	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17757282	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2164627	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55814645	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55885232	0.84[AMR][1000 genomes]
rs56020080	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082161	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56095181	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56119720	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56173737	0.89[AFR][1000 genomes]
rs56232028	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57266336	0.89[AFR][1000 genomes]
rs57642360	0.86[AFR][1000 genomes]
rs58638884	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60693583	0.83[AFR][1000 genomes]
rs72731526	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731527	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731529	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72731531	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731532	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731534	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731539	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731544	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731547	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731549	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731550	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731551	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731554	0.85[EUR][1000 genomes]
rs72731564	0.84[AMR][1000 genomes]
rs72731565	0.84[AMR][1000 genomes]
rs735292	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74060130	0.89[AFR][1000 genomes]
rs74060132	0.89[AFR][1000 genomes]
rs74060133	0.89[AFR][1000 genomes]
rs8013475	0.87[AMR][1000 genomes];0.99[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	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:56 , 50 per page) page: 1 2

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	chr14:69236800-69238800	Enhancers	Lung	lung
12	chr14:69236800-69238800	Enhancers	Spleen	Spleen
13	chr14:69236800-69239800	Enhancers	HUVEC	blood vessel
14	chr14:69236800-69240600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:69237000-69238400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:69237000-69238400	Enhancers	Left Ventricle	heart
17	chr14:69237000-69239600	Enhancers	Fetal Muscle Leg	muscle
18	chr14:69237000-69240000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:69237000-69241800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:69237000-69245800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:69237200-69238400	Enhancers	Primary T cells from cord blood	blood
22	chr14:69237200-69238400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:69237200-69238600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:69237200-69240800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:69237400-69238800	Enhancers	Fetal Muscle Trunk	muscle
26	chr14:69237400-69239400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:69237400-69240800	Enhancers	Fetal Thymus	thymus
28	chr14:69237600-69238800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:69237600-69239600	Enhancers	Adipose Nuclei	Adipose
30	chr14:69237600-69240000	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:69237600-69240000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:69237600-69241000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:69237800-69238400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr14:69237800-69238400	Enhancers	Right Atrium	heart
35	chr14:69237800-69238600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:69237800-69239600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:69237800-69240400	Enhancers	Thymus	Thymus
38	chr14:69238000-69238600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr14:69238000-69238800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:69238000-69239200	Enhancers	Primary B cells from cord blood	blood
41	chr14:69238200-69238400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr14:69238200-69238400	Enhancers	Right Ventricle	heart
43	chr14:69238200-69238600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:69238200-69238600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr14:69238200-69238600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr14:69238200-69238600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:69238200-69238800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr14:69238200-69238800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr14:69238200-69238800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:69238200-69238800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links