Variant report

Variant	rs12587068
Chromosome Location	chr14:81347252-81347253
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10129919	0.82[EUR][1000 genomes]
rs11159475	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11159476	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12147014	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12147744	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12586162	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12586908	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12587210	0.81[AMR][1000 genomes]
rs12587246	0.92[AMR][1000 genomes]
rs12587367	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12587373	0.85[AMR][1000 genomes]
rs12587844	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12588075	0.85[AMR][1000 genomes]
rs12588758	0.81[AMR][1000 genomes]
rs12589266	0.81[AMR][1000 genomes]
rs12589927	0.85[AMR][1000 genomes]
rs12589935	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12590579	0.82[EUR][1000 genomes]
rs12590770	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12878621	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12880008	0.85[AMR][1000 genomes]
rs12884630	0.92[AMR][1000 genomes]
rs12885049	0.89[AMR][1000 genomes]
rs12885819	0.89[AMR][1000 genomes]
rs12892149	0.89[AMR][1000 genomes]
rs12897928	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1458992	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17094159	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17111143	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17111144	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17111149	0.85[AMR][1000 genomes]
rs17111151	0.82[EUR][1000 genomes]
rs17111165	0.85[AMR][1000 genomes]
rs17111167	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2021815	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2077532	0.83[AMR][1000 genomes]
rs2371417	0.81[AMR][1000 genomes]
rs2888031	0.85[AMR][1000 genomes]
rs34144142	0.92[AMR][1000 genomes]
rs34232168	0.85[AMR][1000 genomes]
rs34264363	0.85[AMR][1000 genomes]
rs34296139	0.92[AMR][1000 genomes]
rs34465155	0.85[AMR][1000 genomes]
rs34563443	0.81[AMR][1000 genomes]
rs34611247	0.89[AMR][1000 genomes]
rs34868228	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35380298	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35728625	0.89[AMR][1000 genomes]
rs35765671	0.89[AMR][1000 genomes]
rs3861639	0.85[AMR][1000 genomes]
rs55634365	0.89[AMR][1000 genomes]
rs55859624	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60407794	0.89[AMR][1000 genomes]
rs66586819	0.89[AMR][1000 genomes]
rs66748940	0.85[AMR][1000 genomes]
rs71416850	0.83[AMR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81329200-81359400	Weak transcription	HSMM	muscle
3	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
6	chr14:81337800-81348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:81338200-81348000	Weak transcription	Liver	Liver
8	chr14:81338400-81350600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:81338800-81347600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:81338800-81353800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:81339600-81348000	Weak transcription	Adipose Nuclei	Adipose
12	chr14:81339600-81348000	Weak transcription	Hela-S3	cervix
13	chr14:81339600-81351600	Weak transcription	Brain Substantia Nigra	brain
14	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:81340000-81348800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:81340000-81354400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:81341800-81350800	Weak transcription	Fetal Intestine Small	intestine
18	chr14:81342800-81350800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:81342800-81352400	Weak transcription	Right Ventricle	heart
20	chr14:81343600-81348000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:81343800-81350800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:81344200-81347400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:81344400-81357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:81344600-81353200	Weak transcription	Fetal Stomach	stomach
25	chr14:81345000-81350800	Weak transcription	Pancreas	Pancrea
26	chr14:81345200-81347600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:81345200-81347600	Weak transcription	A549	lung
28	chr14:81345200-81350800	Weak transcription	Esophagus	oesophagus
29	chr14:81345200-81353200	Weak transcription	Ovary	ovary
30	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
31	chr14:81345400-81347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:81345400-81348800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:81345400-81348800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:81345400-81350800	Weak transcription	Lung	lung
35	chr14:81345400-81350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:81345400-81351200	Weak transcription	Spleen	Spleen
37	chr14:81345400-81355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:81345400-81356200	Weak transcription	Primary B cells from cord blood	blood
39	chr14:81345600-81348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:81345600-81348800	Weak transcription	Fetal Thymus	thymus
41	chr14:81345600-81350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:81345600-81350800	Weak transcription	Thymus	Thymus
43	chr14:81345800-81348800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:81346000-81347800	Weak transcription	Dnd41	blood
45	chr14:81346600-81358200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:81347200-81358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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