Variant report

Variant	rs12892512
Chromosome Location	chr14:71983296-71983297
allele	A/G
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	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10138557	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139519	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1029570	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483836	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873246	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11848785	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12127	0.84[EUR][1000 genomes]
rs12433040	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12878989	0.81[EUR][1000 genomes]
rs12879243	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12880188	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880291	0.84[EUR][1000 genomes]
rs12880611	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12881643	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12881957	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12885344	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887261	0.84[EUR][1000 genomes]
rs12889866	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894016	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894478	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12896900	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12896986	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs14030	0.84[EUR][1000 genomes]
rs17178045	0.83[EUR][1000 genomes]
rs17178206	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17178234	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17178387	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767392	0.84[EUR][1000 genomes]
rs17767410	0.84[EUR][1000 genomes]
rs17767446	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767499	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767523	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767553	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767680	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767686	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859643	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1981588	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1990241	0.84[EUR][1000 genomes]
rs2108049	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2108057	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2108707	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2109276	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2190240	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2214836	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2332638	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2332640	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2332641	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2877729	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28859432	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33994051	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34011442	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34057981	0.85[EUR][1000 genomes]
rs34169215	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34176710	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34281934	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34320622	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34347034	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34388001	0.84[EUR][1000 genomes]
rs34454371	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34469007	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34480562	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34524083	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34528013	0.84[EUR][1000 genomes]
rs34528131	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34533948	0.81[EUR][1000 genomes]
rs34649709	0.80[EUR][1000 genomes]
rs34674149	0.84[EUR][1000 genomes]
rs34725136	0.81[EUR][1000 genomes]
rs34746156	0.80[EUR][1000 genomes]
rs34748537	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34767050	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34873919	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34957192	0.82[EUR][1000 genomes]
rs34991781	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34993988	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35051046	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35054229	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35094946	0.80[EUR][1000 genomes]
rs35122644	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35231795	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35260692	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35415083	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35468256	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35589413	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35609708	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35613269	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35620527	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35621718	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35625243	0.83[EUR][1000 genomes]
rs35680546	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35692397	0.83[EUR][1000 genomes]
rs35760654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35796129	0.81[EUR][1000 genomes]
rs35822724	0.82[EUR][1000 genomes]
rs35831373	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35854505	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35866366	0.84[EUR][1000 genomes]
rs35971049	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36052007	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36057816	0.84[EUR][1000 genomes]
rs36072220	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36093218	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784062	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3784064	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784066	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825719	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4140797	0.82[EUR][1000 genomes]
rs4319698	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899398	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902938	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902941	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4902942	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55883127	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56180634	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56363446	0.84[EUR][1000 genomes]
rs56407721	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989367	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989373	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989374	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989377	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989379	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61989382	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61989383	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989386	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61989417	0.81[AFR][1000 genomes]
rs61991199	0.80[EUR][1000 genomes]
rs61991201	0.80[EUR][1000 genomes]
rs61991202	0.81[EUR][1000 genomes]
rs61991203	0.84[EUR][1000 genomes]
rs61991204	0.84[EUR][1000 genomes]
rs61991205	0.84[EUR][1000 genomes]
rs61991213	0.80[EUR][1000 genomes]
rs61991243	0.82[EUR][1000 genomes]
rs61991246	0.81[EUR][1000 genomes]
rs61991247	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61991248	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61991249	0.82[EUR][1000 genomes]
rs61991250	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61991254	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61991255	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574015	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574016	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66645707	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67489015	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68073803	0.81[EUR][1000 genomes]
rs7140354	0.84[EUR][1000 genomes]
rs7140501	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7142180	0.84[EUR][1000 genomes]
rs7142343	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7144299	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144829	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7145755	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7147434	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147668	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7148679	0.82[EUR][1000 genomes]
rs7152674	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7152842	0.82[EUR][1000 genomes]
rs7154787	0.86[EUR][1000 genomes]
rs7154841	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7156313	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156460	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7157241	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722633	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs723966	0.84[EUR][1000 genomes]
rs725673	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72728427	0.82[EUR][1000 genomes]
rs757850	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003478	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8006300	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8007068	0.82[EUR][1000 genomes]
rs8008605	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010616	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8013161	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8014349	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015644	0.80[EUR][1000 genomes]
rs8017775	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019721	0.82[EUR][1000 genomes]
rs9323561	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9672060	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:71965200-71988000	Weak transcription	HSMM	muscle
3	chr14:71966200-71996400	Weak transcription	NHEK	skin
4	chr14:71972600-72006400	Weak transcription	Fetal Thymus	thymus
5	chr14:71974400-71997400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:71974800-71985400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:71975800-71988200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:71976400-71988200	Weak transcription	NH-A	brain
9	chr14:71976800-71995600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:71976800-72008400	Weak transcription	Thymus	Thymus
11	chr14:71977200-71988200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:71977600-71995600	Weak transcription	Fetal Stomach	stomach
13	chr14:71977800-71984600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:71978000-71988000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:71978000-71999400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:71978000-72002800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:71978200-71985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:71978200-72000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:71978400-71983400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:71978400-72002600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:71978400-72009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:71978400-72014800	Weak transcription	HMEC	breast
23	chr14:71979000-71984600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:71979000-71987600	Weak transcription	Pancreas	Pancrea
25	chr14:71979000-71998400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:71979200-71995600	Weak transcription	Gastric	stomach
27	chr14:71979400-71984200	Strong transcription	GM12878-XiMat	blood
28	chr14:71979600-71983400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:71980000-71984200	Weak transcription	Fetal Heart	heart
30	chr14:71980000-71995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:71980000-71996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:71980000-71996400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
34	chr14:71980200-71984600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:71980400-71985400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:71980400-71988000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:71980400-71988200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:71980600-71996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:71980800-71988000	Weak transcription	Fetal Intestine Large	intestine
40	chr14:71981000-71983600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:71981000-71985400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:71981200-71988200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:71981200-71995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:71981200-71996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:71981200-72002200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:71981400-71984800	Weak transcription	Primary T cells from cord blood	blood
47	chr14:71981400-71985200	Weak transcription	Dnd41	blood
48	chr14:71981400-71985800	Weak transcription	Primary B cells from cord blood	blood
49	chr14:71981400-71988200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:71981400-71995600	Weak transcription	Esophagus	oesophagus

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