Variant report

Variant	rs7145712
Chromosome Location	chr14:39524912-39524913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1028591	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1040836	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883114	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883946	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12887605	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12891260	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891438	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895569	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12896384	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12896963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897263	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897593	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17607605	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17616347	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617123	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17617289	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17670531	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17676972	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17679493	0.82[ASN][1000 genomes]
rs1884383	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884386	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1950508	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960796	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2144526	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2144527	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273315	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2415533	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28364834	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34292075	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34328534	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870044	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34896803	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34984050	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35006421	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35395604	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35412542	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35502984	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35534904	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35729735	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35767652	0.80[ASN][1000 genomes]
rs35873738	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35976812	0.81[EUR][1000 genomes]
rs4555056	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55902358	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993688	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57550673	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59881143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61338087	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571887	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67190795	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67968129	0.80[ASN][1000 genomes]
rs7140282	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71407778	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143056	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7143370	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144730	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151407	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7152392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154223	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157774	0.80[EUR][1000 genomes]
rs743222	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8007028	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007240	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011244	0.80[EUR][1000 genomes]
rs8011494	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8017648	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8020013	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020321	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743466	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743749	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39499000-39525000	Strong transcription	Liver	Liver
2	chr14:39500000-39525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39511200-39525000	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr14:39512600-39525000	Strong transcription	Fetal Lung	lung
5	chr14:39513600-39525000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:39514800-39525000	Strong transcription	Left Ventricle	heart
7	chr14:39515200-39525000	Strong transcription	Stomach Smooth Muscle	stomach
8	chr14:39516000-39525000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:39516600-39525000	Weak transcription	Stomach Mucosa	stomach
10	chr14:39517400-39525000	Strong transcription	Fetal Stomach	stomach
11	chr14:39517800-39525200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:39518800-39525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:39518800-39527000	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:39519400-39525000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:39519400-39525000	Strong transcription	HSMM	muscle
16	chr14:39519400-39525200	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:39519600-39525000	Strong transcription	Colon Smooth Muscle	Colon
18	chr14:39519600-39525000	Strong transcription	Ovary	ovary
19	chr14:39519600-39527000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr14:39519600-39529400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:39520000-39525200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr14:39520000-39525400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:39520200-39525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:39520200-39525000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:39520200-39525000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:39520200-39528000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr14:39520600-39525000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:39520600-39525000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:39520600-39525000	Strong transcription	HepG2	liver
30	chr14:39520600-39525000	Strong transcription	NH-A	brain
31	chr14:39520600-39525200	Strong transcription	Osteobl	bone
32	chr14:39520800-39525800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:39521000-39525000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr14:39521000-39525000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:39521200-39529800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:39521200-39535600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:39521400-39525000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:39522000-39525000	Weak transcription	Fetal Heart	heart
39	chr14:39522200-39525000	Weak transcription	Esophagus	oesophagus
40	chr14:39522400-39525000	Weak transcription	Fetal Kidney	kidney
41	chr14:39523000-39525000	Strong transcription	NHLF	lung
42	chr14:39523000-39525600	ZNF genes & repeats	A549	lung
43	chr14:39523000-39527000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:39523000-39527000	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr14:39523000-39527400	ZNF genes & repeats	Dnd41	blood
46	chr14:39523200-39527000	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr14:39523200-39527400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr14:39523200-39529600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:39523400-39525000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:39523400-39525200	Weak transcription	Small Intestine	intestine

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