Variant report

Variant	rs34340539
Chromosome Location	chr14:33105540-33105541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33104661..33106240-chr14:33107373..33109760,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10135562	0.92[ASN][1000 genomes]
rs10141122	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10144339	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147066	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483416	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11844389	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11846446	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12323757	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12323763	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12323766	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12880113	0.96[ASN][1000 genomes]
rs17515243	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1884619	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1956223	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7141374	0.91[EUR][1000 genomes]
rs71419918	0.96[ASN][1000 genomes]
rs71419919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7142867	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs927062	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:25 , 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	chr14:33103200-33106800	Weak transcription	Left Ventricle	heart
6	chr14:33103200-33107800	Enhancers	Fetal Heart	heart
7	chr14:33103200-33114600	Weak transcription	Aorta	Aorta
8	chr14:33104200-33105800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:33104200-33106200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:33104600-33120400	Weak transcription	HSMMtube	muscle
11	chr14:33104800-33105800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:33104800-33106000	Weak transcription	Right Atrium	heart
13	chr14:33104800-33107000	Weak transcription	NH-A	brain
14	chr14:33104800-33107200	Weak transcription	Osteobl	bone
15	chr14:33104800-33116400	Weak transcription	Brain Substantia Nigra	brain
16	chr14:33105000-33106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:33105000-33117000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:33105000-33117200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:33105200-33105600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:33105200-33105600	Enhancers	Liver	Liver
21	chr14:33105200-33107000	Weak transcription	Brain Anterior Caudate	brain
22	chr14:33105200-33116000	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:33105200-33116400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:33105400-33105800	Weak transcription	NHDF-Ad	bronchial
25	chr14:33105400-33106200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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