Variant report

Variant	rs34993988
Chromosome Location	chr14:71923692-71923693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs10135680	0.86[EUR][1000 genomes]
rs10138557	0.87[EUR][1000 genomes]
rs10139519	0.81[EUR][1000 genomes]
rs1029570	0.87[EUR][1000 genomes]
rs10483836	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11848785	0.82[EUR][1000 genomes]
rs12127	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12433040	0.87[EUR][1000 genomes]
rs12878989	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12879243	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880188	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880291	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880611	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881643	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881957	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884929	0.87[EUR][1000 genomes]
rs12885344	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12887261	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12889866	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891975	0.89[EUR][1000 genomes]
rs12892512	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894016	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894478	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896900	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896986	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14030	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17178045	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17178206	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17178234	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17178387	0.84[EUR][1000 genomes]
rs17767392	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17767398	0.86[EUR][1000 genomes]
rs17767410	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17767446	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767499	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767523	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767553	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767680	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767686	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859643	0.87[EUR][1000 genomes]
rs1981588	0.87[EUR][1000 genomes]
rs1990241	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2108049	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108707	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2109276	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190240	0.87[EUR][1000 genomes]
rs2214836	0.87[EUR][1000 genomes]
rs2332638	0.87[EUR][1000 genomes]
rs2332640	0.87[EUR][1000 genomes]
rs2332641	0.86[EUR][1000 genomes]
rs2877729	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28859432	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33994051	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34011442	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34057981	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34061264	0.88[EUR][1000 genomes]
rs34169215	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34176710	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34281405	0.87[EUR][1000 genomes]
rs34281934	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34320622	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347034	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34388001	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34454371	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469007	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34480562	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34524083	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34528013	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34528131	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34533948	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34649709	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34674149	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34725136	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34746156	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34748537	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767050	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34873919	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34911660	0.84[EUR][1000 genomes]
rs34957192	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34991781	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35051046	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054229	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35094946	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35122644	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35151594	0.85[EUR][1000 genomes]
rs35231795	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35260692	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35415083	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35468256	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35589413	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35609708	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613269	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35620527	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35621718	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35625243	0.92[EUR][1000 genomes]
rs35680546	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35692397	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35760654	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35796129	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35822724	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35831373	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35854505	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35866366	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35971049	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36052007	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36057816	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36072220	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36093218	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784062	0.86[EUR][1000 genomes]
rs3784064	0.87[EUR][1000 genomes]
rs3784066	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825719	0.87[EUR][1000 genomes]
rs4453405	0.85[EUR][1000 genomes]
rs4899394	0.86[EUR][1000 genomes]
rs4899398	0.86[EUR][1000 genomes]
rs4902938	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902941	0.85[EUR][1000 genomes]
rs55883127	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56180634	0.82[EUR][1000 genomes]
rs56363446	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56407721	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989367	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989373	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989374	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989377	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989379	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61989382	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61989383	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989386	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61991199	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991200	0.85[EUR][1000 genomes]
rs61991201	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991202	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991203	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991204	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991205	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991213	0.89[EUR][1000 genomes]
rs61991243	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61991246	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991247	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61991248	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61991249	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61991250	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61991254	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991255	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574015	0.85[EUR][1000 genomes]
rs6574016	0.87[EUR][1000 genomes]
rs66645707	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67489015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68073803	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7140354	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7140501	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7142180	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7142214	0.85[EUR][1000 genomes]
rs7142343	0.87[EUR][1000 genomes]
rs7144299	0.87[EUR][1000 genomes]
rs7144829	0.87[EUR][1000 genomes]
rs7145755	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147434	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147668	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152674	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152842	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7154841	0.87[EUR][1000 genomes]
rs7156313	0.87[EUR][1000 genomes]
rs7156460	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157241	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs722633	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723966	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs725673	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728427	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757850	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8006300	0.81[EUR][1000 genomes]
rs8007068	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008605	0.87[EUR][1000 genomes]
rs8010616	0.83[EUR][1000 genomes]
rs8013161	0.82[EUR][1000 genomes]
rs8014349	0.87[EUR][1000 genomes]
rs8015644	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8017775	0.87[EUR][1000 genomes]
rs8019721	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9323561	0.87[EUR][1000 genomes]
rs9672060	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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	nsv976298	chr14:71917066-71925965	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71900000-71927200	Weak transcription	Primary B cells from cord blood	blood
2	chr14:71906400-71927000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:71907000-71930000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:71907000-71930600	Weak transcription	HSMM	muscle
5	chr14:71908200-71935400	Weak transcription	Primary T cells from cord blood	blood
6	chr14:71913200-71927000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:71914000-71927000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:71915800-71938600	Weak transcription	Small Intestine	intestine
9	chr14:71916400-71932000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:71916600-71932800	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:71919800-71926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:71919800-71926800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:71920000-71927600	Weak transcription	GM12878-XiMat	blood
14	chr14:71920200-71926400	Weak transcription	HMEC	breast
15	chr14:71920200-71931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:71921600-71923800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:71921800-71927000	Weak transcription	Stomach Mucosa	stomach
18	chr14:71921800-71927600	Weak transcription	Aorta	Aorta
19	chr14:71921800-71930000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:71921800-71933200	Weak transcription	Osteobl	bone
21	chr14:71921800-71940600	Weak transcription	Spleen	Spleen
22	chr14:71922000-71925800	Weak transcription	NHEK	skin
23	chr14:71922000-71926400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:71922000-71930600	Weak transcription	Hela-S3	cervix
25	chr14:71922000-71931800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:71922000-71933000	Weak transcription	Fetal Lung	lung
27	chr14:71922200-71929400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:71922200-71929400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:71922200-71932800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:71922200-71944600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:71922400-71924000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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