Variant report

Variant	rs72820847
Chromosome Location	chr6:12966437-12966438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13211739	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28385616	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34054869	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34476983	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34541307	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35056688	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36100854	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66829228	0.81[AMR][1000 genomes]
rs67061558	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67193572	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72820839	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12959200-12968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:12961000-12968400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:12962800-12968000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:12963000-12967400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:12963200-12967800	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:12963400-12967800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:12963600-12966600	Weak transcription	Brain Germinal Matrix	brain
8	chr6:12963600-12967200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:12963600-12967600	Weak transcription	NHDF-Ad	bronchial
10	chr6:12963600-12969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:12963600-12971000	Weak transcription	HSMM	muscle
12	chr6:12963600-12971600	Weak transcription	Spleen	Spleen
13	chr6:12963600-12972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:12963600-12973000	Weak transcription	Pancreas	Pancrea
15	chr6:12963600-12974600	Weak transcription	Right Ventricle	heart
16	chr6:12964000-12967400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:12964000-12967800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:12964000-12968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:12964000-12968200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:12964000-12971400	Enhancers	Fetal Heart	heart
21	chr6:12964000-12988000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:12964200-12968000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:12964200-12968000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:12964200-12968400	Weak transcription	Fetal Lung	lung
25	chr6:12964800-12968000	Weak transcription	Brain Anterior Caudate	brain
26	chr6:12964800-12968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:12964800-12969400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:12965200-12967800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:12965200-12968200	Weak transcription	Aorta	Aorta
30	chr6:12965200-12971000	Weak transcription	HUVEC	blood vessel
31	chr6:12966000-12966600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:12966000-12966800	Strong transcription	Left Ventricle	heart
33	chr6:12966000-12968800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:12966200-12966600	Enhancers	Lung	lung
35	chr6:12966200-12968000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:12966200-12968200	Enhancers	Primary hematopoietic stem cells	blood

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