Variant report

Variant	rs56180634
Chromosome Location	chr14:71989933-71989934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10135680	0.84[EUR][1000 genomes]
rs10138557	0.88[EUR][1000 genomes]
rs1029570	0.88[EUR][1000 genomes]
rs10483836	0.88[EUR][1000 genomes]
rs11848785	0.94[EUR][1000 genomes]
rs12127	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12433040	0.86[EUR][1000 genomes]
rs12878989	0.84[EUR][1000 genomes]
rs12879243	0.81[EUR][1000 genomes]
rs12880188	0.91[EUR][1000 genomes]
rs12880291	0.88[EUR][1000 genomes]
rs12880611	0.82[EUR][1000 genomes]
rs12881957	0.82[EUR][1000 genomes]
rs12884929	0.80[EUR][1000 genomes]
rs12885344	0.88[EUR][1000 genomes]
rs12887261	0.88[EUR][1000 genomes]
rs12889866	0.82[EUR][1000 genomes]
rs12891975	0.82[EUR][1000 genomes]
rs12892512	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12894016	0.81[EUR][1000 genomes]
rs12896900	0.83[EUR][1000 genomes]
rs12896986	0.82[EUR][1000 genomes]
rs14030	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17178206	0.82[EUR][1000 genomes]
rs17178234	0.82[EUR][1000 genomes]
rs17178387	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17767523	0.82[EUR][1000 genomes]
rs17767553	0.82[EUR][1000 genomes]
rs17767680	0.91[EUR][1000 genomes]
rs17767686	0.91[EUR][1000 genomes]
rs1859643	0.88[EUR][1000 genomes]
rs1981588	0.86[EUR][1000 genomes]
rs2108049	0.82[EUR][1000 genomes]
rs2108057	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2109276	0.82[EUR][1000 genomes]
rs2190240	0.88[EUR][1000 genomes]
rs2214836	0.86[EUR][1000 genomes]
rs2332638	0.86[EUR][1000 genomes]
rs2332640	0.88[EUR][1000 genomes]
rs2332641	0.84[EUR][1000 genomes]
rs2877729	0.81[EUR][1000 genomes]
rs28859432	0.87[EUR][1000 genomes]
rs33994051	0.82[EUR][1000 genomes]
rs34061264	0.81[EUR][1000 genomes]
rs34169215	0.88[EUR][1000 genomes]
rs34176710	0.80[EUR][1000 genomes]
rs34281405	0.80[EUR][1000 genomes]
rs34281934	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34320622	0.82[EUR][1000 genomes]
rs34347034	0.81[EUR][1000 genomes]
rs34388001	0.88[EUR][1000 genomes]
rs34454371	0.81[EUR][1000 genomes]
rs34469007	0.82[EUR][1000 genomes]
rs34480562	0.88[EUR][1000 genomes]
rs34991781	0.87[EUR][1000 genomes]
rs34993988	0.82[EUR][1000 genomes]
rs35231795	0.88[EUR][1000 genomes]
rs35415083	0.88[EUR][1000 genomes]
rs35589413	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35613269	0.82[EUR][1000 genomes]
rs35620527	0.88[EUR][1000 genomes]
rs35625243	0.86[EUR][1000 genomes]
rs35680546	0.80[EUR][1000 genomes]
rs35760654	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35831373	0.87[EUR][1000 genomes]
rs35866366	0.85[EUR][1000 genomes]
rs35971049	0.91[EUR][1000 genomes]
rs36052007	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36072220	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36093218	0.80[EUR][1000 genomes]
rs3784062	0.85[EUR][1000 genomes]
rs3784064	0.86[EUR][1000 genomes]
rs3784066	0.88[EUR][1000 genomes]
rs3825719	0.86[EUR][1000 genomes]
rs4899398	0.85[EUR][1000 genomes]
rs4902938	0.88[EUR][1000 genomes]
rs4902941	0.83[EUR][1000 genomes]
rs55883127	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56407721	0.82[EUR][1000 genomes]
rs61989367	0.82[EUR][1000 genomes]
rs61989373	0.82[EUR][1000 genomes]
rs61989374	0.82[EUR][1000 genomes]
rs61989377	0.81[EUR][1000 genomes]
rs61989379	0.88[EUR][1000 genomes]
rs61989382	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61989383	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61989386	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991213	0.82[EUR][1000 genomes]
rs61991243	0.85[EUR][1000 genomes]
rs61991246	0.84[EUR][1000 genomes]
rs61991249	0.85[EUR][1000 genomes]
rs61991255	0.82[EUR][1000 genomes]
rs6574015	0.84[EUR][1000 genomes]
rs6574016	0.86[EUR][1000 genomes]
rs66645707	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67489015	0.82[EUR][1000 genomes]
rs7140501	0.88[EUR][1000 genomes]
rs7142343	0.86[EUR][1000 genomes]
rs7144299	0.86[EUR][1000 genomes]
rs7144829	0.86[EUR][1000 genomes]
rs7152674	0.91[EUR][1000 genomes]
rs7152842	0.85[EUR][1000 genomes]
rs7154841	0.86[EUR][1000 genomes]
rs7156313	0.86[EUR][1000 genomes]
rs7157241	0.91[EUR][1000 genomes]
rs722633	0.82[EUR][1000 genomes]
rs725673	0.82[EUR][1000 genomes]
rs757850	0.91[EUR][1000 genomes]
rs8006300	0.94[EUR][1000 genomes]
rs8008605	0.86[EUR][1000 genomes]
rs8010616	0.82[EUR][1000 genomes]
rs8013161	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014349	0.86[EUR][1000 genomes]
rs8015644	0.84[EUR][1000 genomes]
rs8017775	0.88[EUR][1000 genomes]
rs8019721	0.85[EUR][1000 genomes]
rs9323561	0.86[EUR][1000 genomes]
rs9672060	0.91[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:78 , 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	chr14:71966200-71996400	Weak transcription	NHEK	skin
3	chr14:71972600-72006400	Weak transcription	Fetal Thymus	thymus
4	chr14:71974400-71997400	Weak transcription	Brain Substantia Nigra	brain
5	chr14:71976800-71995600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:71976800-72008400	Weak transcription	Thymus	Thymus
7	chr14:71977600-71995600	Weak transcription	Fetal Stomach	stomach
8	chr14:71978000-71999400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:71978000-72002800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:71978200-72000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:71978400-72002600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:71978400-72009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:71978400-72014800	Weak transcription	HMEC	breast
14	chr14:71979000-71998400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:71979200-71995600	Weak transcription	Gastric	stomach
16	chr14:71980000-71995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:71980000-71996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:71980000-71996400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
20	chr14:71980600-71996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:71981200-71995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:71981200-71996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:71981200-72002200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:71981400-71995600	Weak transcription	Esophagus	oesophagus
25	chr14:71981400-71995600	Weak transcription	Spleen	Spleen
26	chr14:71981400-71996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:71981400-71996400	Weak transcription	Ovary	ovary
28	chr14:71981400-71996800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:71981400-71997000	Weak transcription	Aorta	Aorta
30	chr14:71981400-71999200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:71981400-72003200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:71981400-72021400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:71981600-71990200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:71981600-71992600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:71981600-72008400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:71982000-71996200	Weak transcription	Brain Anterior Caudate	brain
37	chr14:71982000-71996600	Weak transcription	Liver	Liver
38	chr14:71982200-71990600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:71982200-71996400	Weak transcription	Brain Angular Gyrus	brain
40	chr14:71982400-71996000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:71982400-71996200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:71982600-71996200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:71982600-71996200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:71983000-71990200	Weak transcription	Fetal Lung	lung
45	chr14:71983000-71992600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:71983000-71996400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:71985600-71996400	Weak transcription	Primary T cells from cord blood	blood
48	chr14:71985600-71999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:71985600-72004000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:71986000-71996200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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