Variant report

Variant	rs12100564
Chromosome Location	chr14:81359117-81359118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10132220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1013890	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.93[ASN][1000 genomes]
rs10140915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10150391	0.86[ASN][1000 genomes]
rs10151557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1025252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12101029	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588767	1.00[JPT][hapmap]
rs17615156	0.93[ASN][1000 genomes]
rs2217175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs28787628	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56991751	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57742095	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60659347	1.00[ASN][1000 genomes]
rs60949197	0.80[ASN][1000 genomes]
rs7144634	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7160694	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs73340189	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340195	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340197	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340199	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342124	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342509	0.80[ASN][1000 genomes]
rs73342556	0.93[ASN][1000 genomes]
rs73344006	0.82[AFR][1000 genomes]
rs73344010	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344625	0.93[ASN][1000 genomes]
rs8003193	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8021757	0.95[EUR][1000 genomes];0.86[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	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	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
4	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:81351800-81372800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:81351800-81380000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:81352200-81372800	Weak transcription	Thymus	Thymus
12	chr14:81353200-81361200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:81355200-81384600	Weak transcription	Hela-S3	cervix
14	chr14:81356200-81371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:81356400-81361200	Strong transcription	Fetal Thymus	thymus
16	chr14:81356800-81381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:81357200-81359400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:81357200-81359600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:81357400-81359400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:81357800-81359400	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:81358000-81380800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:81358200-81359200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr14:81358200-81359600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:81358400-81360000	ZNF genes & repeats	Dnd41	blood
27	chr14:81358600-81359600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr14:81358600-81359800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:81358600-81381400	Weak transcription	Primary T cells from cord blood	blood
30	chr14:81358800-81359600	Strong transcription	Fetal Lung	lung
31	chr14:81358800-81359800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:81358800-81362600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:81358800-81369600	Weak transcription	Primary B cells from cord blood	blood
34	chr14:81358800-81379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:81359000-81359400	Strong transcription	A549	lung
36	chr14:81359000-81372800	Weak transcription	NHDF-Ad	bronchial

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