Variant report

Variant	rs61989382
Chromosome Location	chr14:71983638-71983639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10135680	0.87[EUR][1000 genomes]
rs10138557	0.91[EUR][1000 genomes]
rs10139519	0.82[EUR][1000 genomes]
rs1029570	0.91[EUR][1000 genomes]
rs10483836	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11848785	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12127	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12433040	0.88[EUR][1000 genomes]
rs12878989	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12879243	0.83[EUR][1000 genomes]
rs12880188	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12880291	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12880611	0.84[EUR][1000 genomes]
rs12881643	0.82[EUR][1000 genomes]
rs12881957	0.84[EUR][1000 genomes]
rs12884929	0.83[EUR][1000 genomes]
rs12885344	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12887261	0.90[EUR][1000 genomes]
rs12889866	0.84[EUR][1000 genomes]
rs12891975	0.84[EUR][1000 genomes]
rs12892512	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12894016	0.83[EUR][1000 genomes]
rs12894478	0.80[EUR][1000 genomes]
rs12896900	0.86[EUR][1000 genomes]
rs12896986	0.84[EUR][1000 genomes]
rs14030	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17178206	0.84[EUR][1000 genomes]
rs17178234	0.84[EUR][1000 genomes]
rs17178387	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17767398	0.82[EUR][1000 genomes]
rs17767446	0.81[EUR][1000 genomes]
rs17767499	0.82[EUR][1000 genomes]
rs17767523	0.84[EUR][1000 genomes]
rs17767553	0.84[EUR][1000 genomes]
rs17767680	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17767686	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1859643	0.91[EUR][1000 genomes]
rs1981588	0.88[EUR][1000 genomes]
rs2108049	0.84[EUR][1000 genomes]
rs2108057	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2109276	0.84[EUR][1000 genomes]
rs2190240	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2214836	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2332638	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2332640	0.91[EUR][1000 genomes]
rs2332641	0.87[EUR][1000 genomes]
rs2877729	0.83[EUR][1000 genomes]
rs28859432	0.90[EUR][1000 genomes]
rs33994051	0.84[EUR][1000 genomes]
rs34061264	0.84[EUR][1000 genomes]
rs34169215	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34176710	0.83[EUR][1000 genomes]
rs34281405	0.83[EUR][1000 genomes]
rs34281934	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34320622	0.84[EUR][1000 genomes]
rs34347034	0.83[EUR][1000 genomes]
rs34388001	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34454371	0.83[EUR][1000 genomes]
rs34469007	0.84[EUR][1000 genomes]
rs34480562	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34524083	0.81[EUR][1000 genomes]
rs34528131	0.81[EUR][1000 genomes]
rs34748537	0.81[EUR][1000 genomes]
rs34991781	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34993988	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35051046	0.82[EUR][1000 genomes]
rs35151594	0.81[EUR][1000 genomes]
rs35231795	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35260692	0.81[EUR][1000 genomes]
rs35415083	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35468256	0.82[EUR][1000 genomes]
rs35589413	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35613269	0.84[EUR][1000 genomes]
rs35620527	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35625243	0.89[EUR][1000 genomes]
rs35680546	0.83[EUR][1000 genomes]
rs35760654	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35831373	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35854505	0.82[EUR][1000 genomes]
rs35866366	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35971049	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36052007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36072220	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36093218	0.83[EUR][1000 genomes]
rs3784062	0.88[EUR][1000 genomes]
rs3784064	0.88[EUR][1000 genomes]
rs3784066	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3825719	0.88[EUR][1000 genomes]
rs4453405	0.80[EUR][1000 genomes]
rs4899394	0.82[EUR][1000 genomes]
rs4899398	0.88[EUR][1000 genomes]
rs4902938	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4902941	0.86[EUR][1000 genomes]
rs55883127	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56180634	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56407721	0.84[EUR][1000 genomes]
rs61989367	0.84[EUR][1000 genomes]
rs61989373	0.84[EUR][1000 genomes]
rs61989374	0.84[EUR][1000 genomes]
rs61989377	0.83[EUR][1000 genomes]
rs61989379	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61989383	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61989386	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61991200	0.80[EUR][1000 genomes]
rs61991213	0.85[EUR][1000 genomes]
rs61991243	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61991246	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61991247	0.81[EUR][1000 genomes]
rs61991248	0.81[EUR][1000 genomes]
rs61991249	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61991250	0.81[EUR][1000 genomes]
rs61991254	0.80[EUR][1000 genomes]
rs61991255	0.84[EUR][1000 genomes]
rs6574015	0.86[EUR][1000 genomes]
rs6574016	0.88[EUR][1000 genomes]
rs66645707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67489015	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7140501	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7142214	0.81[EUR][1000 genomes]
rs7142343	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7144299	0.88[EUR][1000 genomes]
rs7144829	0.88[EUR][1000 genomes]
rs7145755	0.82[EUR][1000 genomes]
rs7147668	0.81[EUR][1000 genomes]
rs7152674	0.94[EUR][1000 genomes]
rs7152842	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154841	0.88[EUR][1000 genomes]
rs7156313	0.88[EUR][1000 genomes]
rs7156460	0.81[EUR][1000 genomes]
rs7157241	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs722633	0.84[EUR][1000 genomes]
rs725673	0.84[EUR][1000 genomes]
rs757850	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8003478	0.81[EUR][1000 genomes]
rs8006300	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8008605	0.88[EUR][1000 genomes]
rs8010616	0.84[EUR][1000 genomes]
rs8013161	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8014349	0.88[EUR][1000 genomes]
rs8015644	0.86[EUR][1000 genomes]
rs8017775	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8019721	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323561	0.88[EUR][1000 genomes]
rs9672060	0.84[AMR][1000 genomes];0.94[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:81 , 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	chr14:71978400-72002600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:71978400-72009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:71978400-72014800	Weak transcription	HMEC	breast
22	chr14:71979000-71984600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:71979000-71987600	Weak transcription	Pancreas	Pancrea
24	chr14:71979000-71998400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:71979200-71995600	Weak transcription	Gastric	stomach
26	chr14:71979400-71984200	Strong transcription	GM12878-XiMat	blood
27	chr14:71980000-71984200	Weak transcription	Fetal Heart	heart
28	chr14:71980000-71995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:71980000-71996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:71980000-71996400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
32	chr14:71980200-71984600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:71980400-71985400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:71980400-71988000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:71980400-71988200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:71980600-71996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:71980800-71988000	Weak transcription	Fetal Intestine Large	intestine
38	chr14:71981000-71985400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:71981200-71988200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:71981200-71995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:71981200-71996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:71981200-72002200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr14:71981400-71984800	Weak transcription	Primary T cells from cord blood	blood
44	chr14:71981400-71985200	Weak transcription	Dnd41	blood
45	chr14:71981400-71985800	Weak transcription	Primary B cells from cord blood	blood
46	chr14:71981400-71988200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:71981400-71995600	Weak transcription	Esophagus	oesophagus
48	chr14:71981400-71995600	Weak transcription	Spleen	Spleen
49	chr14:71981400-71996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:71981400-71996400	Weak transcription	Ovary	ovary

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