Variant report

Variant	rs988387
Chromosome Location	chr14:79434024-79434025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10483919	0.91[ASN][1000 genomes]
rs10483920	0.90[ASN][1000 genomes]
rs1549265	0.91[ASN][1000 genomes]
rs17108418	1.00[ASN][1000 genomes]
rs17757946	0.91[ASN][1000 genomes]
rs17757966	0.91[ASN][1000 genomes]
rs17757972	0.91[ASN][1000 genomes]
rs17757990	1.00[ASN][1000 genomes]
rs17758002	1.00[ASN][1000 genomes]
rs17835842	0.90[ASN][1000 genomes]
rs17835893	0.91[ASN][1000 genomes]
rs17835908	0.91[ASN][1000 genomes]
rs17835914	0.91[ASN][1000 genomes]
rs31451	0.91[ASN][1000 genomes]
rs34943490	0.91[ASN][1000 genomes]
rs718787	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832838	chr14:79306627-79445382	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79416800-79436000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:79426600-79435800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:79426600-79437200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:79426600-79437400	Weak transcription	Brain Angular Gyrus	brain
5	chr14:79431200-79437200	Weak transcription	GM12878-XiMat	blood
6	chr14:79433200-79435600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:79433200-79435600	Enhancers	HUVEC	blood vessel
8	chr14:79433400-79435600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:79433400-79436400	Enhancers	NH-A	brain
10	chr14:79433600-79434800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:79433600-79436400	Enhancers	HSMM	muscle
12	chr14:79433600-79436600	Enhancers	Osteobl	bone
13	chr14:79433800-79434600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:79434000-79434200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:79434000-79434200	Enhancers	NHLF	lung
16	chr14:79434000-79435600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:79434000-79436800	Weak transcription	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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