Variant report

Variant	rs12878621
Chromosome Location	chr14:81358705-81358706
allele	A/G
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	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11159475	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11159476	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12147014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12147744	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12586162	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12586908	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12587068	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12587210	0.85[AMR][1000 genomes]
rs12587246	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12587367	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12587373	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12587844	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588075	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12588758	0.85[AMR][1000 genomes]
rs12589266	0.85[AMR][1000 genomes]
rs12589927	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12589935	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590579	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12590770	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12880008	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12884630	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12885049	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12885819	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12892149	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12897928	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1458992	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17094159	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17111143	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17111144	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17111149	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17111151	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17111165	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17111167	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2021815	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2077532	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2371417	0.85[AMR][1000 genomes]
rs2888031	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34144142	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34232168	0.89[AMR][1000 genomes]
rs34264363	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34296139	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34465155	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34563443	0.85[AMR][1000 genomes]
rs34611247	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34868228	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35380298	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35728625	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35765671	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3861639	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55634365	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55859624	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60407794	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs66586819	0.92[AMR][1000 genomes]
rs66748940	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71416850	0.87[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:36 , 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	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
5	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:81351800-81372800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:81351800-81380000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:81352200-81372800	Weak transcription	Thymus	Thymus
13	chr14:81353200-81361200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:81355200-81384600	Weak transcription	Hela-S3	cervix
15	chr14:81356200-81371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:81356400-81361200	Strong transcription	Fetal Thymus	thymus
17	chr14:81356800-81381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:81357200-81358800	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr14:81357200-81359400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:81357200-81359600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:81357400-81359400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:81357800-81359400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:81358000-81359000	Weak transcription	A549	lung
25	chr14:81358000-81380800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:81358200-81358800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr14:81358200-81359000	ZNF genes & repeats	NHDF-Ad	bronchial
29	chr14:81358200-81359200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr14:81358200-81359600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:81358400-81358800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:81358400-81360000	ZNF genes & repeats	Dnd41	blood
33	chr14:81358600-81358800	ZNF genes & repeats	Fetal Lung	lung
34	chr14:81358600-81359600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr14:81358600-81359800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:81358600-81381400	Weak transcription	Primary T cells from cord blood	blood

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