Variant report

Variant	rs9473318
Chromosome Location	chr6:13054608-13054609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10948405	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56950799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73366282	1.00[EUR][1000 genomes]
rs73368106	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7451414	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7757631	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7757960	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13029800-13056400	Weak transcription	Pancreas	Pancrea
2	chr6:13030000-13056400	Weak transcription	Brain Germinal Matrix	brain
3	chr6:13039400-13054800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:13039400-13071600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:13040000-13058000	Weak transcription	Fetal Brain Male	brain
6	chr6:13048400-13063400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:13048600-13058000	Weak transcription	Lung	lung
8	chr6:13052200-13060600	Weak transcription	Aorta	Aorta
9	chr6:13052400-13066600	Weak transcription	Right Ventricle	heart
10	chr6:13052600-13063400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:13053000-13055200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:13053400-13055400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:13053400-13059400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:13053600-13054800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:13053600-13055400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:13053800-13058000	Weak transcription	Fetal Heart	heart
17	chr6:13054000-13055000	Active TSS	Brain Anterior Caudate	brain
18	chr6:13054000-13055200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:13054000-13061200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:13054200-13055000	Genic enhancers	Left Ventricle	heart
21	chr6:13054200-13056200	Strong transcription	Primary hematopoietic stem cells	blood
22	chr6:13054400-13060200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:13054400-13071800	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:13054600-13058000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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