Variant report

Variant	rs10138557
Chromosome Location	chr14:72061718-72061719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:72061640-72061790	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr14:72061640-72061790	AG09319	gingival:	n/a	n/a
3	RUNX3	chr14:72061463-72061824	GM12878	blood:	n/a	chr14:72061655-72061664 chr14:72061655-72061664
4	RUNX3	chr14:72061492-72061829	GM12878	blood:	n/a	chr14:72061655-72061664 chr14:72061655-72061664
5	RAD21	chr14:72061579-72061933	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr14:72061525-72061907	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
SIPA1L1	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10135680	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10139519	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1029570	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483836	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10873246	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11848785	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12127	0.82[EUR][1000 genomes]
rs12433040	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12879243	0.86[EUR][1000 genomes]
rs12880188	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880291	0.82[EUR][1000 genomes]
rs12880611	0.87[EUR][1000 genomes]
rs12881643	0.84[EUR][1000 genomes]
rs12881957	0.87[EUR][1000 genomes]
rs12885344	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12887261	0.82[EUR][1000 genomes]
rs12889866	0.87[EUR][1000 genomes]
rs12892512	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894016	0.86[EUR][1000 genomes]
rs12894478	0.83[EUR][1000 genomes]
rs12896900	0.89[EUR][1000 genomes]
rs12896986	0.87[EUR][1000 genomes]
rs14030	0.82[EUR][1000 genomes]
rs17178206	0.87[EUR][1000 genomes]
rs17178234	0.87[EUR][1000 genomes]
rs17178387	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767446	0.84[EUR][1000 genomes]
rs17767499	0.84[EUR][1000 genomes]
rs17767523	0.87[EUR][1000 genomes]
rs17767553	0.87[EUR][1000 genomes]
rs17767680	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767686	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859643	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981588	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108049	0.87[EUR][1000 genomes]
rs2108057	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2109276	0.87[EUR][1000 genomes]
rs2190240	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2214836	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2332638	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2332640	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332641	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877729	0.86[EUR][1000 genomes]
rs28859432	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33994051	0.87[EUR][1000 genomes]
rs34169215	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34176710	0.86[EUR][1000 genomes]
rs34281934	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34320622	0.87[EUR][1000 genomes]
rs34347034	0.86[EUR][1000 genomes]
rs34388001	0.82[EUR][1000 genomes]
rs34454371	0.86[EUR][1000 genomes]
rs34469007	0.87[EUR][1000 genomes]
rs34480562	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34524083	0.84[EUR][1000 genomes]
rs34528131	0.84[EUR][1000 genomes]
rs34748537	0.84[EUR][1000 genomes]
rs34991781	0.81[EUR][1000 genomes]
rs34993988	0.87[EUR][1000 genomes]
rs35051046	0.84[EUR][1000 genomes]
rs35231795	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35260692	0.84[EUR][1000 genomes]
rs35415083	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35468256	0.84[EUR][1000 genomes]
rs35589413	0.90[EUR][1000 genomes]
rs35613269	0.87[EUR][1000 genomes]
rs35620527	0.82[EUR][1000 genomes]
rs35625243	0.80[EUR][1000 genomes]
rs35680546	0.86[EUR][1000 genomes]
rs35760654	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35831373	0.81[EUR][1000 genomes]
rs35854505	0.84[EUR][1000 genomes]
rs35971049	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36052007	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36072220	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36093218	0.86[EUR][1000 genomes]
rs3784062	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784064	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784066	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825719	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140797	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4319698	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899398	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902938	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902941	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902942	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55883127	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56180634	0.88[EUR][1000 genomes]
rs56407721	0.87[EUR][1000 genomes]
rs61989367	0.87[EUR][1000 genomes]
rs61989373	0.87[EUR][1000 genomes]
rs61989374	0.87[EUR][1000 genomes]
rs61989377	0.86[EUR][1000 genomes]
rs61989379	0.82[EUR][1000 genomes]
rs61989382	0.91[EUR][1000 genomes]
rs61989383	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989386	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61991247	0.84[EUR][1000 genomes]
rs61991248	0.84[EUR][1000 genomes]
rs61991250	0.84[EUR][1000 genomes]
rs61991254	0.83[EUR][1000 genomes]
rs61991255	0.87[EUR][1000 genomes]
rs6574015	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574016	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66645707	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67489015	0.87[EUR][1000 genomes]
rs7140501	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142343	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144299	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144829	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145755	0.84[EUR][1000 genomes]
rs7147434	0.82[EUR][1000 genomes]
rs7147668	0.84[EUR][1000 genomes]
rs7148679	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152674	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154787	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154841	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7156313	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156460	0.84[EUR][1000 genomes]
rs7157241	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs722633	0.87[EUR][1000 genomes]
rs725673	0.87[EUR][1000 genomes]
rs757850	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003478	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8006300	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8008605	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010616	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8013161	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8014349	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017775	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323561	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9672060	0.89[AMR][1000 genomes];0.97[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	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72039400-72064400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:72042000-72069400	Weak transcription	Lung	lung
3	chr14:72049800-72063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:72053400-72064400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:72053400-72066400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:72053400-72066600	Weak transcription	Adipose Nuclei	Adipose
7	chr14:72053400-72070200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:72053400-72098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:72053600-72062400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:72053600-72064600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:72053600-72066000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:72053600-72066200	Weak transcription	Liver	Liver
13	chr14:72053600-72066600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:72053600-72068000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:72053800-72061800	Weak transcription	Fetal Kidney	kidney
16	chr14:72055200-72087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:72057600-72063200	Enhancers	Dnd41	blood
18	chr14:72057800-72062400	Weak transcription	Brain Germinal Matrix	brain
19	chr14:72058200-72062200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:72058400-72062800	Enhancers	NHDF-Ad	bronchial
21	chr14:72058400-72063000	Enhancers	Fetal Heart	heart
22	chr14:72058600-72062600	Genic enhancers	GM12878-XiMat	blood
23	chr14:72058600-72063000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:72058600-72065000	Enhancers	Fetal Thymus	thymus
25	chr14:72059000-72098600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:72059400-72062000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:72059400-72062800	Genic enhancers	Osteobl	bone
28	chr14:72059400-72063000	Enhancers	Brain Angular Gyrus	brain
29	chr14:72059400-72063600	Weak transcription	NHEK	skin
30	chr14:72059400-72063800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:72059400-72063800	Weak transcription	Esophagus	oesophagus
32	chr14:72059400-72064200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:72059400-72064200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:72059400-72064200	Weak transcription	Primary B cells from cord blood	blood
35	chr14:72059400-72064400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:72059400-72064400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:72059400-72066800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:72059400-72072400	Weak transcription	Pancreas	Pancrea
39	chr14:72059400-72072600	Weak transcription	Gastric	stomach
40	chr14:72059400-72088000	Weak transcription	NHLF	lung
41	chr14:72059600-72063800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:72059600-72064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:72059600-72072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:72059800-72062600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:72059800-72063000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:72059800-72063800	Weak transcription	HMEC	breast
47	chr14:72059800-72085600	Weak transcription	NH-A	brain
48	chr14:72059800-72087600	Weak transcription	Hela-S3	cervix
49	chr14:72060200-72063000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr14:72060200-72064200	Weak transcription	Spleen	Spleen

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