Variant report

Variant	rs12879243
Chromosome Location	chr14:71905815-71905816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIPA1L1-2	chr14:71905719-71905991	NONHSAT037636

Extended variants
information (count: 187 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10135680	0.88[EUR][1000 genomes]
rs10138557	0.86[EUR][1000 genomes]
rs10139519	0.83[EUR][1000 genomes]
rs1029570	0.86[EUR][1000 genomes]
rs10483836	0.92[EUR][1000 genomes]
rs11848785	0.81[EUR][1000 genomes]
rs12127	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12433040	0.89[EUR][1000 genomes]
rs12878989	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12880188	0.89[EUR][1000 genomes]
rs12880291	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12880611	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12881643	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12881957	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12884929	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12885344	0.91[EUR][1000 genomes]
rs12887261	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12889866	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12891975	0.85[EUR][1000 genomes]
rs12892512	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12894016	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894478	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12896900	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12896986	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs14030	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17178045	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17178206	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17178234	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17178387	0.83[EUR][1000 genomes]
rs17767380	0.81[EUR][1000 genomes]
rs17767392	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17767398	0.83[EUR][1000 genomes]
rs17767410	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767446	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767499	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767523	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767680	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17767686	0.89[EUR][1000 genomes]
rs1859643	0.86[EUR][1000 genomes]
rs1981588	0.89[EUR][1000 genomes]
rs1990241	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2108049	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2108707	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2109276	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2190240	0.86[EUR][1000 genomes]
rs2214836	0.89[EUR][1000 genomes]
rs2332638	0.89[EUR][1000 genomes]
rs2332640	0.86[EUR][1000 genomes]
rs2332641	0.88[EUR][1000 genomes]
rs2877729	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28859432	0.85[EUR][1000 genomes]
rs33994051	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34011442	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34057981	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34061264	0.85[EUR][1000 genomes]
rs34169215	0.92[EUR][1000 genomes]
rs34176710	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34281405	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34281934	0.83[EUR][1000 genomes]
rs34320622	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34347034	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34388001	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34454371	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34469007	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34480562	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34524083	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34528013	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34528131	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34533948	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34649709	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34674149	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34725136	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34746156	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34748537	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34767050	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34873919	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34911660	0.81[EUR][1000 genomes]
rs34957192	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34991781	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34993988	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35051046	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35054229	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35094946	0.86[EUR][1000 genomes]
rs35122644	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35151594	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35231795	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35260692	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35415083	0.92[EUR][1000 genomes]
rs35468256	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35589413	0.83[EUR][1000 genomes]
rs35609708	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35613269	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35620527	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35621718	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35625243	0.89[EUR][1000 genomes]
rs35680546	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35692397	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35760654	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35796129	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35822724	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35831373	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35854505	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35866366	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35971049	0.89[EUR][1000 genomes]
rs36052007	0.83[EUR][1000 genomes]
rs36057816	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36072220	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36093218	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784062	0.88[EUR][1000 genomes]
rs3784064	0.89[EUR][1000 genomes]
rs3784066	0.92[EUR][1000 genomes]
rs3825719	0.89[EUR][1000 genomes]
rs4453405	0.81[EUR][1000 genomes]
rs4899394	0.83[EUR][1000 genomes]
rs4899398	0.88[EUR][1000 genomes]
rs4902938	0.92[EUR][1000 genomes]
rs4902941	0.87[EUR][1000 genomes]
rs55883127	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56180634	0.81[EUR][1000 genomes]
rs56363446	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56407721	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989367	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989373	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989374	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989377	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989379	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61989382	0.83[EUR][1000 genomes]
rs61989383	0.89[EUR][1000 genomes]
rs61989386	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61991195	0.81[EUR][1000 genomes]
rs61991199	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61991200	0.81[EUR][1000 genomes]
rs61991201	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61991202	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61991203	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991204	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991205	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61991213	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61991243	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61991246	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61991247	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61991248	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61991249	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61991250	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61991254	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61991255	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574015	0.87[EUR][1000 genomes]
rs6574016	0.89[EUR][1000 genomes]
rs66645707	0.83[EUR][1000 genomes]
rs67489015	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68073803	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7140354	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7140501	0.86[EUR][1000 genomes]
rs7142180	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7142214	0.82[EUR][1000 genomes]
rs7142343	0.89[EUR][1000 genomes]
rs7144299	0.89[EUR][1000 genomes]
rs7144829	0.89[EUR][1000 genomes]
rs7145755	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7147434	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7147668	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7152674	0.89[EUR][1000 genomes]
rs7152842	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7154841	0.89[EUR][1000 genomes]
rs7156313	0.89[EUR][1000 genomes]
rs7156460	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7157241	0.89[EUR][1000 genomes]
rs722633	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs723966	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs725673	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72728427	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs757850	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8003478	0.81[EUR][1000 genomes]
rs8006300	0.80[EUR][1000 genomes]
rs8007068	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8008605	0.89[EUR][1000 genomes]
rs8010616	0.85[EUR][1000 genomes]
rs8013161	0.81[EUR][1000 genomes]
rs8014349	0.89[EUR][1000 genomes]
rs8015644	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8017775	0.86[EUR][1000 genomes]
rs8019721	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9323561	0.89[EUR][1000 genomes]
rs9672060	0.89[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	esv3388109	chr14:71888248-71908062	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71885800-71915400	Weak transcription	Pancreas	Pancrea
2	chr14:71892800-71907600	Weak transcription	Dnd41	blood
3	chr14:71898000-71909400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:71900000-71927200	Weak transcription	Primary B cells from cord blood	blood
5	chr14:71900200-71909000	Weak transcription	Fetal Intestine Small	intestine
6	chr14:71900200-71915800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:71900400-71915400	Weak transcription	Gastric	stomach
8	chr14:71901400-71915800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:71904000-71906000	Genic enhancers	GM12878-XiMat	blood
10	chr14:71904000-71906400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:71904000-71907400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:71904200-71908400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:71904200-71908400	Enhancers	Hela-S3	cervix
14	chr14:71904400-71906800	Enhancers	Fetal Lung	lung
15	chr14:71904400-71907200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:71904400-71907200	Enhancers	NH-A	brain
17	chr14:71904600-71906000	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:71904600-71907000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:71904800-71906000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:71904800-71906400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:71905000-71906000	Enhancers	Esophagus	oesophagus
22	chr14:71905000-71906000	Enhancers	Fetal Kidney	kidney
23	chr14:71905000-71906000	Enhancers	Ovary	ovary
24	chr14:71905000-71907000	Enhancers	HMEC	breast
25	chr14:71905000-71907000	Enhancers	HSMM	muscle
26	chr14:71905000-71907000	Enhancers	HSMMtube	muscle
27	chr14:71905000-71907200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:71905000-71908400	Enhancers	Colon Smooth Muscle	Colon
29	chr14:71905200-71906000	Enhancers	Aorta	Aorta
30	chr14:71905200-71906000	Weak transcription	Brain Substantia Nigra	brain
31	chr14:71905200-71906000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:71905200-71906000	Enhancers	Fetal Stomach	stomach
33	chr14:71905200-71906800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr14:71905200-71907200	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:71905200-71908400	Enhancers	Fetal Heart	heart
36	chr14:71905200-71911000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:71905400-71906000	Enhancers	Spleen	Spleen
38	chr14:71905400-71906200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:71905400-71906200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:71905400-71907000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:71905400-71907000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:71905400-71907000	Enhancers	Stomach Mucosa	stomach
43	chr14:71905400-71907000	Enhancers	NHEK	skin
44	chr14:71905400-71907200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:71905400-71907200	Enhancers	Adipose Nuclei	Adipose
46	chr14:71905600-71906000	Active TSS	Brain Hippocampus Middle	brain
47	chr14:71905600-71906200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:71905600-71906400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr14:71905600-71906400	Flanking Active TSS	Osteobl	bone
50	chr14:71905600-71906600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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