Variant report

Variant	rs71419908
Chromosome Location	chr14:32900776-32900777
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1951189	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1951191	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1957013	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1957015	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1957019	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2383302	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784188	0.81[ASN][1000 genomes]
rs4329831	0.80[AMR][1000 genomes]
rs4981969	0.81[ASN][1000 genomes]
rs7157747	0.95[ASN][1000 genomes]
rs8013463	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs941746	1.00[AMR][1000 genomes];0.92[EUR][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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32887800-32901800	Weak transcription	Ovary	ovary
2	chr14:32892000-32902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:32895200-32902200	Enhancers	Brain Hippocampus Middle	brain
4	chr14:32896200-32902000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:32896600-32902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:32896600-32902000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:32896800-32903600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:32897600-32901200	Enhancers	Brain Substantia Nigra	brain
9	chr14:32897600-32908400	Weak transcription	Fetal Brain Female	brain
10	chr14:32898000-32902000	Weak transcription	Left Ventricle	heart
11	chr14:32898000-32902600	Weak transcription	Brain Germinal Matrix	brain
12	chr14:32898000-32906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:32898200-32901800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:32898200-32908200	Weak transcription	Right Atrium	heart
15	chr14:32898400-32901200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:32898400-32901800	Weak transcription	Brain Angular Gyrus	brain
17	chr14:32898400-32902200	Weak transcription	Esophagus	oesophagus
18	chr14:32898400-32902800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:32898400-32903600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:32898400-32908400	Weak transcription	Psoas Muscle	Psoas
21	chr14:32899000-32902000	Weak transcription	Fetal Heart	heart
22	chr14:32899000-32902600	Weak transcription	Right Ventricle	heart
23	chr14:32899000-32913400	Weak transcription	Fetal Lung	lung
24	chr14:32899200-32902000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr14:32899400-32902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:32899600-32900800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:32899600-32906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:32899800-32901000	Weak transcription	Brain Anterior Caudate	brain
29	chr14:32899800-32901000	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:32899800-32901800	Weak transcription	Aorta	Aorta
31	chr14:32899800-32902200	Weak transcription	HSMMtube	muscle
32	chr14:32899800-32902600	Weak transcription	K562	blood
33	chr14:32899800-32907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:32900000-32902200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:32900000-32902200	Weak transcription	HSMM	muscle
36	chr14:32900000-32902200	Weak transcription	Osteobl	bone
37	chr14:32900000-32905800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:32900200-32902400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:32900400-32901800	Weak transcription	Brain Cingulate Gyrus	brain

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