Variant report

Variant	rs8003478
Chromosome Location	chr14:72120363-72120364
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10133626	1.00[JPT][hapmap]
rs10135680	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10138557	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1029570	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10483836	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10873246	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848785	0.83[EUR][1000 genomes]
rs1204995	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1204996	1.00[JPT][hapmap]
rs12433040	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12879243	0.81[EUR][1000 genomes]
rs12880188	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12880611	0.82[EUR][1000 genomes]
rs12885344	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12889866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12892512	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12894016	0.81[EUR][1000 genomes]
rs12896900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12896986	0.82[EUR][1000 genomes]
rs17178206	0.82[EUR][1000 genomes]
rs17178234	0.82[EUR][1000 genomes]
rs17178387	0.81[EUR][1000 genomes]
rs17767523	0.82[EUR][1000 genomes]
rs17767553	0.82[EUR][1000 genomes]
rs17767680	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17767686	0.86[EUR][1000 genomes]
rs1859643	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1981588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2108049	0.82[EUR][1000 genomes]
rs2108057	0.88[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs2109276	0.82[EUR][1000 genomes]
rs2190240	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2214836	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2286136	1.00[JPT][hapmap]
rs2332638	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2332640	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2332641	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2877729	0.82[EUR][1000 genomes]
rs28859432	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33994051	0.82[EUR][1000 genomes]
rs34169215	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34176710	0.81[EUR][1000 genomes]
rs34281934	0.81[EUR][1000 genomes]
rs34320622	0.82[EUR][1000 genomes]
rs34347034	0.83[EUR][1000 genomes]
rs34454371	0.81[EUR][1000 genomes]
rs34469007	0.82[EUR][1000 genomes]
rs34480562	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35231795	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35415083	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35589413	0.80[EUR][1000 genomes]
rs35613269	0.82[EUR][1000 genomes]
rs35680546	0.81[EUR][1000 genomes]
rs35760654	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35971049	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36052007	0.81[EUR][1000 genomes]
rs36072220	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3784062	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3784066	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3825719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4140797	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4319698	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902938	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902941	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902942	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55883127	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61989367	0.82[EUR][1000 genomes]
rs61989373	0.82[EUR][1000 genomes]
rs61989374	0.82[EUR][1000 genomes]
rs61989377	0.82[EUR][1000 genomes]
rs61989382	0.81[EUR][1000 genomes]
rs61989383	0.86[EUR][1000 genomes]
rs61989386	0.81[EUR][1000 genomes]
rs61989417	0.93[AFR][1000 genomes]
rs61991255	0.82[EUR][1000 genomes]
rs6574015	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574016	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66645707	0.81[EUR][1000 genomes]
rs7140501	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7142343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144299	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7144829	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148679	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152674	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154787	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154841	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7156313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7157241	0.86[EUR][1000 genomes]
rs722633	0.82[EUR][1000 genomes]
rs725673	0.82[EUR][1000 genomes]
rs757850	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8006300	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs8008605	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010616	0.86[EUR][1000 genomes]
rs8013161	0.83[EUR][1000 genomes]
rs8014349	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8017775	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9323561	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9672060	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72073200-72137800	Weak transcription	Esophagus	oesophagus
2	chr14:72082600-72125000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:72083600-72128200	Weak transcription	Spleen	Spleen
4	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:72090000-72124200	Weak transcription	Hela-S3	cervix
6	chr14:72091000-72127400	Weak transcription	Pancreas	Pancrea
7	chr14:72106000-72125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:72109200-72137800	Weak transcription	Fetal Stomach	stomach
9	chr14:72109800-72150800	Weak transcription	Colonic Mucosa	Colon
10	chr14:72111200-72139000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:72112000-72128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:72113800-72141600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:72114400-72126000	Weak transcription	Stomach Mucosa	stomach
14	chr14:72114400-72138000	Weak transcription	Gastric	stomach
15	chr14:72115000-72133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:72115600-72125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:72117000-72120400	ZNF genes & repeats	GM12878-XiMat	blood
18	chr14:72117200-72120600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:72117200-72120600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:72117400-72120400	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr14:72117400-72123200	Weak transcription	Aorta	Aorta
22	chr14:72117400-72125000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:72117400-72125200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:72117400-72128000	Weak transcription	Lung	lung
25	chr14:72117600-72128000	Weak transcription	Fetal Thymus	thymus
26	chr14:72117600-72131800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:72118200-72120400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:72118400-72128000	Weak transcription	Thymus	Thymus
29	chr14:72118600-72120400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr14:72118600-72120600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:72118600-72125200	Weak transcription	HMEC	breast
32	chr14:72118600-72125200	Weak transcription	NHLF	lung
33	chr14:72118600-72128000	Weak transcription	Fetal Kidney	kidney
34	chr14:72118600-72128000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:72118600-72133600	Weak transcription	Fetal Lung	lung
36	chr14:72118600-72142000	Weak transcription	Fetal Brain Male	brain
37	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:72118800-72121800	Strong transcription	Osteobl	bone
39	chr14:72118800-72122800	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:72118800-72124400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:72118800-72124800	Weak transcription	HSMMtube	muscle
42	chr14:72118800-72125000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:72118800-72125000	Weak transcription	NH-A	brain
44	chr14:72118800-72125200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:72118800-72125200	Weak transcription	Brain Angular Gyrus	brain
46	chr14:72119000-72120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:72119000-72121000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:72119000-72122400	Weak transcription	Fetal Heart	heart
49	chr14:72119000-72125000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:72119000-72125000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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