Variant report

Variant	rs12437260
Chromosome Location	chr14:81363624-81363625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10133034	0.87[JPT][hapmap]
rs10135084	0.86[JPT][hapmap]
rs10137041	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10141970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144692	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1016699	0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1038523	0.88[JPT][hapmap]
rs11625199	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11627934	0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1197467	0.87[JPT][hapmap]
rs1197474	0.87[JPT][hapmap]
rs12050151	0.81[JPT][hapmap]
rs12050342	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050416	0.83[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12433134	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12434318	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12896436	0.82[JPT][hapmap]
rs162171	0.87[JPT][hapmap]
rs162174	0.87[JPT][hapmap]
rs170595	0.88[JPT][hapmap]
rs170596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17111237	0.81[JPT][hapmap]
rs17111246	0.81[JPT][hapmap]
rs17111256	0.82[JPT][hapmap]
rs17615020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1863765	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2010847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2059719	0.81[JPT][hapmap]
rs2162547	0.82[JPT][hapmap]
rs228119	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs228122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228124	0.82[ASN][1000 genomes]
rs228126	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228128	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284722	0.81[JPT][hapmap]
rs2288347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371420	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371421	0.86[ASN][1000 genomes]
rs2371456	0.82[ASN][1000 genomes]
rs2556603	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556604	0.82[ASN][1000 genomes]
rs2556606	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556607	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2556608	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556610	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556612	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556614	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2556615	0.84[ASN][1000 genomes]
rs2619661	0.88[JPT][hapmap]
rs28850656	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2888032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327423	0.87[JPT][hapmap]
rs327424	0.87[JPT][hapmap]
rs327428	0.88[JPT][hapmap]
rs327429	0.87[JPT][hapmap]
rs327434	0.87[JPT][hapmap]
rs327439	0.90[CHB][hapmap]
rs327452	0.88[JPT][hapmap]
rs327454	0.87[JPT][hapmap]
rs327464	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs327465	0.89[CHB][hapmap]
rs327477	0.90[CHB][hapmap]
rs328206	0.88[JPT][hapmap]
rs328212	0.88[JPT][hapmap]
rs328213	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs328239	0.89[CHB][hapmap]
rs4016442	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899779	0.84[ASN][1000 genomes]
rs4899780	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4903943	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903944	0.84[ASN][1000 genomes]
rs4903945	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903946	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903947	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903949	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58699962	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574606	0.84[ASN][1000 genomes]
rs6574608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574609	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6574610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140452	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7147306	0.85[ASN][1000 genomes]
rs7150858	0.90[YRI][hapmap]
rs7156306	0.84[ASN][1000 genomes]
rs7156572	0.85[JPT][hapmap]
rs7157845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158936	0.87[JPT][hapmap]
rs722906	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7493314	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs759918	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs759919	0.84[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs768359	0.83[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs8008366	0.88[JPT][hapmap]
rs8010491	0.81[ASN][1000 genomes]
rs8016507	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8016601	0.80[CEU][hapmap]
rs8017949	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323694	0.86[JPT][hapmap]

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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
3	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:81351800-81372800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:81351800-81380000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81352200-81372800	Weak transcription	Thymus	Thymus
11	chr14:81355200-81384600	Weak transcription	Hela-S3	cervix
12	chr14:81356200-81371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:81356800-81381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:81358000-81380800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:81358600-81381400	Weak transcription	Primary T cells from cord blood	blood
18	chr14:81358800-81369600	Weak transcription	Primary B cells from cord blood	blood
19	chr14:81358800-81379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:81359000-81372800	Weak transcription	NHDF-Ad	bronchial
21	chr14:81359200-81380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:81359400-81363800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:81359400-81368800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:81359400-81379800	Weak transcription	Adipose Nuclei	Adipose
26	chr14:81359400-81380000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:81359400-81380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:81359400-81406000	Weak transcription	A549	lung
29	chr14:81359600-81365400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:81359600-81381800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:81359800-81371000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:81359800-81372200	Weak transcription	HSMM	muscle
33	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:81360000-81383400	Strong transcription	Dnd41	blood
36	chr14:81360200-81393800	Weak transcription	HMEC	breast
37	chr14:81360800-81371800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:81361200-81365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81361200-81366600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:81361800-81368600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:81362000-81369800	Strong transcription	Fetal Thymus	thymus
42	chr14:81362000-81384600	Weak transcription	HUVEC	blood vessel
43	chr14:81362200-81392600	Weak transcription	NH-A	brain
44	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:81362600-81366400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:81362800-81365200	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:81362800-81365600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:81363200-81373000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:81363400-81381800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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