Variant report

Variant	rs12323763
Chromosome Location	chr14:33106864-33106865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10135562	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10141122	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144339	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147066	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483416	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11844389	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11846446	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12323757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12880113	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17515243	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1884619	0.95[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1956223	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34340539	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981994	0.82[CEU][hapmap]
rs7141374	0.91[EUR][1000 genomes]
rs71419918	0.93[ASN][1000 genomes]
rs71419919	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142867	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs927062	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv826913	chr14:33106831-33107529	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33099200-33120400	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:33101800-33107600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:33102600-33107800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:33102800-33107000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:33103200-33107800	Enhancers	Fetal Heart	heart
6	chr14:33103200-33114600	Weak transcription	Aorta	Aorta
7	chr14:33104600-33120400	Weak transcription	HSMMtube	muscle
8	chr14:33104800-33107000	Weak transcription	NH-A	brain
9	chr14:33104800-33107200	Weak transcription	Osteobl	bone
10	chr14:33104800-33116400	Weak transcription	Brain Substantia Nigra	brain
11	chr14:33105000-33117000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:33105000-33117200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:33105200-33107000	Weak transcription	Brain Anterior Caudate	brain
14	chr14:33105200-33116000	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:33105200-33116400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:33106000-33107000	Weak transcription	NHDF-Ad	bronchial
17	chr14:33106200-33107200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:33106600-33107400	Enhancers	Right Atrium	heart
19	chr14:33106800-33107000	Enhancers	Left Ventricle	heart
20	chr14:33106800-33107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:33106800-33107600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:33106800-33107600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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