Variant report

Variant	rs12887261
Chromosome Location	chr14:71941979-71941980
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10135680	0.80[EUR][1000 genomes]
rs10138557	0.82[EUR][1000 genomes]
rs1029570	0.82[EUR][1000 genomes]
rs10483836	0.84[EUR][1000 genomes]
rs11848785	0.88[EUR][1000 genomes]
rs12127	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433040	0.82[EUR][1000 genomes]
rs12878989	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879243	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12880188	0.84[EUR][1000 genomes]
rs12880291	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12880611	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12881643	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12881957	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12884929	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12885344	0.83[EUR][1000 genomes]
rs12889866	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12891975	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12892512	0.84[EUR][1000 genomes]
rs12894016	0.90[EUR][1000 genomes]
rs12894478	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12896900	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12896986	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs14030	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17178045	0.82[EUR][1000 genomes]
rs17178206	0.91[EUR][1000 genomes]
rs17178234	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17178387	0.90[EUR][1000 genomes]
rs17767386	0.82[EUR][1000 genomes]
rs17767392	0.82[EUR][1000 genomes]
rs17767398	0.91[EUR][1000 genomes]
rs17767410	0.83[EUR][1000 genomes]
rs17767446	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17767499	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17767523	0.91[EUR][1000 genomes]
rs17767553	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767680	0.84[EUR][1000 genomes]
rs17767686	0.84[EUR][1000 genomes]
rs1859643	0.82[EUR][1000 genomes]
rs1981588	0.82[EUR][1000 genomes]
rs1990241	0.83[EUR][1000 genomes]
rs2108049	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2108057	0.86[EUR][1000 genomes]
rs2108707	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2109276	0.91[EUR][1000 genomes]
rs2190240	0.82[EUR][1000 genomes]
rs2214836	0.82[EUR][1000 genomes]
rs2332638	0.82[EUR][1000 genomes]
rs2332640	0.82[EUR][1000 genomes]
rs2332641	0.80[EUR][1000 genomes]
rs2877729	0.90[EUR][1000 genomes]
rs28859432	0.80[EUR][1000 genomes]
rs33994051	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34011442	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34057981	0.84[EUR][1000 genomes]
rs34061264	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34169215	0.84[EUR][1000 genomes]
rs34176710	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34281405	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34281934	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34320622	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34347034	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34388001	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34454371	0.90[EUR][1000 genomes]
rs34469007	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34480562	0.84[EUR][1000 genomes]
rs34524083	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34528013	0.82[EUR][1000 genomes]
rs34528131	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34533948	0.85[EUR][1000 genomes]
rs34649709	0.84[EUR][1000 genomes]
rs34674149	0.83[EUR][1000 genomes]
rs34725136	0.85[EUR][1000 genomes]
rs34746156	0.84[EUR][1000 genomes]
rs34748537	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34767050	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34873919	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34911660	0.89[EUR][1000 genomes]
rs34957192	0.80[EUR][1000 genomes]
rs34991781	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34993988	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35051046	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35054229	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35094946	0.84[EUR][1000 genomes]
rs35122644	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35151594	0.90[EUR][1000 genomes]
rs35231795	0.84[EUR][1000 genomes]
rs35260692	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35415083	0.84[EUR][1000 genomes]
rs35468256	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35589413	0.90[EUR][1000 genomes]
rs35609708	0.84[EUR][1000 genomes]
rs35613269	0.91[EUR][1000 genomes]
rs35620527	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35621718	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35625243	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35680546	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35692397	0.82[EUR][1000 genomes]
rs35760654	0.84[EUR][1000 genomes]
rs35796129	0.85[EUR][1000 genomes]
rs35822724	0.86[EUR][1000 genomes]
rs35831373	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35854505	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35866366	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35971049	0.84[EUR][1000 genomes]
rs36052007	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36057816	0.82[EUR][1000 genomes]
rs36072220	0.85[EUR][1000 genomes]
rs36093218	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3784062	0.81[EUR][1000 genomes]
rs3784064	0.82[EUR][1000 genomes]
rs3784066	0.84[EUR][1000 genomes]
rs3825719	0.82[EUR][1000 genomes]
rs4453405	0.90[EUR][1000 genomes]
rs4899394	0.91[EUR][1000 genomes]
rs4899398	0.81[EUR][1000 genomes]
rs4902938	0.84[EUR][1000 genomes]
rs55883127	0.84[EUR][1000 genomes]
rs56180634	0.88[EUR][1000 genomes]
rs56363446	0.82[EUR][1000 genomes]
rs56407721	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61989367	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61989373	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61989374	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61989377	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61989379	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989382	0.90[EUR][1000 genomes]
rs61989383	0.84[EUR][1000 genomes]
rs61989386	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991199	0.84[EUR][1000 genomes]
rs61991200	0.90[EUR][1000 genomes]
rs61991201	0.84[EUR][1000 genomes]
rs61991202	0.85[EUR][1000 genomes]
rs61991203	0.82[EUR][1000 genomes]
rs61991204	0.82[EUR][1000 genomes]
rs61991205	0.83[EUR][1000 genomes]
rs61991213	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61991243	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61991246	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61991247	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61991248	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61991249	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61991250	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61991254	0.87[EUR][1000 genomes]
rs61991255	0.91[EUR][1000 genomes]
rs6574016	0.82[EUR][1000 genomes]
rs66645707	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67489015	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68073803	0.85[EUR][1000 genomes]
rs7140354	0.82[EUR][1000 genomes]
rs7140501	0.81[EUR][1000 genomes]
rs7142180	0.82[EUR][1000 genomes]
rs7142214	0.90[EUR][1000 genomes]
rs7142343	0.82[EUR][1000 genomes]
rs7144299	0.82[EUR][1000 genomes]
rs7144829	0.82[EUR][1000 genomes]
rs7145755	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7147434	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7147668	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7152674	0.84[EUR][1000 genomes]
rs7152842	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154841	0.82[EUR][1000 genomes]
rs7156313	0.82[EUR][1000 genomes]
rs7156460	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7157241	0.84[EUR][1000 genomes]
rs722633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs723966	0.82[EUR][1000 genomes]
rs725673	0.91[EUR][1000 genomes]
rs72728427	0.86[EUR][1000 genomes]
rs757850	0.84[EUR][1000 genomes]
rs8006300	0.87[EUR][1000 genomes]
rs8007068	0.86[EUR][1000 genomes]
rs8008605	0.82[EUR][1000 genomes]
rs8013161	0.88[EUR][1000 genomes]
rs8014349	0.82[EUR][1000 genomes]
rs8015644	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8017775	0.82[EUR][1000 genomes]
rs8019721	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9323561	0.82[EUR][1000 genomes]
rs9672060	0.84[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	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71922200-71944600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr14:71928000-71944800	Weak transcription	Primary B cells from cord blood	blood
3	chr14:71929200-71964200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:71930200-71954200	Weak transcription	Gastric	stomach
5	chr14:71930200-71955600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:71931200-71948800	Weak transcription	Aorta	Aorta
7	chr14:71934400-71946400	Weak transcription	Adipose Nuclei	Adipose
8	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:71936200-71942400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:71936400-71951400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:71938400-71943200	Enhancers	Osteobl	bone
12	chr14:71938400-71943600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:71939000-71942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:71939000-71945400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:71939000-71945400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:71939000-71950400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:71939000-71959800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:71939200-71942000	Enhancers	Hela-S3	cervix
19	chr14:71939200-71955800	Weak transcription	NHLF	lung
20	chr14:71939400-71942400	Weak transcription	Dnd41	blood
21	chr14:71939400-71945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:71939800-71942600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:71939800-71942600	Enhancers	GM12878-XiMat	blood
24	chr14:71939800-71944400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:71939800-71954200	Weak transcription	Small Intestine	intestine
26	chr14:71940200-71942200	Enhancers	Fetal Heart	heart
27	chr14:71940200-71942800	Enhancers	Brain Anterior Caudate	brain
28	chr14:71940200-71943000	Enhancers	Brain Germinal Matrix	brain
29	chr14:71940200-71943200	Enhancers	Brain Angular Gyrus	brain
30	chr14:71940200-71943200	Enhancers	Brain Hippocampus Middle	brain
31	chr14:71940400-71943200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:71940600-71942000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:71940600-71942000	Enhancers	Brain Substantia Nigra	brain
34	chr14:71940600-71943000	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:71940600-71943000	Enhancers	Fetal Lung	lung
36	chr14:71941000-71942200	Enhancers	NHEK	skin
37	chr14:71941000-71942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:71941000-71942600	Weak transcription	HSMM	muscle
39	chr14:71941000-71943000	Enhancers	Rectal Smooth Muscle	rectum
40	chr14:71941200-71945400	Weak transcription	Fetal Stomach	stomach
41	chr14:71941200-71945400	Weak transcription	NHDF-Ad	bronchial
42	chr14:71941200-71947800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:71941200-71948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:71941200-71950400	Weak transcription	Spleen	Spleen
45	chr14:71941200-71950600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:71941200-71954200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:71941200-71954400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:71941400-71942400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:71941400-71942800	Weak transcription	Psoas Muscle	Psoas
50	chr14:71941400-71945000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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