Variant report

Variant	rs16890720
Chromosome Location	chr6:80132292-80132293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10484943	0.98[ASN][1000 genomes]
rs1385530	0.96[ASN][1000 genomes]
rs16890623	0.84[ASN][1000 genomes]
rs16890716	0.82[ASN][1000 genomes]
rs174525	0.98[ASN][1000 genomes]
rs17726405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17726513	0.82[ASN][1000 genomes]
rs17743065	0.96[ASN][1000 genomes]
rs17743190	0.96[ASN][1000 genomes]
rs17799408	0.92[ASN][1000 genomes]
rs17799462	0.96[ASN][1000 genomes]
rs17799708	0.96[ASN][1000 genomes]
rs17799762	0.96[ASN][1000 genomes]
rs17799805	0.96[ASN][1000 genomes]
rs17800074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs196667	0.98[ASN][1000 genomes]
rs196670	0.98[ASN][1000 genomes]
rs3846735	0.96[ASN][1000 genomes]
rs3857449	0.96[ASN][1000 genomes]
rs3857450	0.96[ASN][1000 genomes]
rs3857451	0.96[ASN][1000 genomes]
rs3857453	0.96[ASN][1000 genomes]
rs3857454	0.96[ASN][1000 genomes]
rs3907327	0.96[ASN][1000 genomes]
rs3907328	0.96[ASN][1000 genomes]
rs3907329	0.96[ASN][1000 genomes]
rs4092965	0.92[ASN][1000 genomes]
rs4364439	0.96[ASN][1000 genomes]
rs4580824	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[ASN][1000 genomes]
rs55715962	0.96[ASN][1000 genomes]
rs55805600	0.98[ASN][1000 genomes]
rs55989328	0.92[ASN][1000 genomes]
rs56226127	0.96[ASN][1000 genomes]
rs56277073	0.96[ASN][1000 genomes]
rs62411314	0.94[ASN][1000 genomes]
rs6925847	0.98[ASN][1000 genomes]
rs6939506	0.96[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80129800-80133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:80130200-80132400	Enhancers	Osteobl	bone
3	chr6:80130600-80132400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:80130600-80132600	Enhancers	Hela-S3	cervix
5	chr6:80130800-80132400	Enhancers	Brain Germinal Matrix	brain
6	chr6:80130800-80132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:80131000-80132400	Enhancers	HSMM	muscle
8	chr6:80131200-80133400	Active TSS	Brain Cingulate Gyrus	brain
9	chr6:80131200-80133800	Active TSS	Brain Anterior Caudate	brain
10	chr6:80131200-80134400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:80131200-80134600	Active TSS	Brain Angular Gyrus	brain
12	chr6:80131400-80133200	Active TSS	Brain Substantia Nigra	brain
13	chr6:80131600-80132400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:80131600-80132400	Enhancers	NH-A	brain
15	chr6:80131600-80132600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:80131600-80132600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:80131600-80133200	Active TSS	Brain Hippocampus Middle	brain
18	chr6:80131600-80133200	Enhancers	NHLF	lung
19	chr6:80132000-80132600	Active TSS	Fetal Brain Female	brain
20	chr6:80132000-80132800	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:80132000-80133000	Enhancers	HSMMtube	muscle
22	chr6:80132200-80132400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:80132200-80132400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:80132200-80132400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:80132200-80132600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:80132200-80132800	Enhancers	HUVEC	blood vessel
27	chr6:80132200-80133200	Enhancers	Fetal Brain Male	brain
28	chr6:80132200-80135400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:80132200-80135400	Weak transcription	Fetal Heart	heart

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