Variant report

Variant	rs4715082
Chromosome Location	chr6:13068291-13068292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13064599..13066218-chr6:13067982..13070062,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11961962	0.95[EUR][1000 genomes]
rs13190774	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13192747	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13193716	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13200673	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13204304	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13205551	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13205960	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13209107	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13215349	0.89[EUR][1000 genomes]
rs13218974	0.86[EUR][1000 genomes]
rs13219842	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34054185	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34267578	0.89[EUR][1000 genomes]
rs34381599	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34952336	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35229766	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35273948	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35305875	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35776201	0.89[EUR][1000 genomes]
rs36119782	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4132044	0.86[EUR][1000 genomes]
rs4361612	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4373361	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4379290	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4580848	0.85[EUR][1000 genomes]
rs4615376	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711908	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711909	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711910	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4715064	0.88[EUR][1000 genomes]
rs4715072	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6458616	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6932757	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7738252	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7743585	0.89[EUR][1000 genomes]
rs7750023	0.89[EUR][1000 genomes]
rs7750099	0.89[EUR][1000 genomes]
rs7750120	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7756776	0.89[EUR][1000 genomes]
rs7762827	0.94[EUR][1000 genomes]
rs7775103	0.89[EUR][1000 genomes]
rs9296592	0.94[EUR][1000 genomes]
rs9463377	0.88[EUR][1000 genomes]
rs9463408	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9463423	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9473285	0.89[EUR][1000 genomes]
rs9473354	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9473370	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9473427	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9473436	0.95[EUR][1000 genomes];0.98[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13039400-13071600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:13054400-13071800	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:13054800-13074600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:13055200-13073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:13055200-13076400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:13056200-13068400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:13056200-13068800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:13059200-13077600	Weak transcription	Lung	lung
9	chr6:13063600-13069200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:13066200-13071800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:13066800-13072200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:13067000-13073000	Enhancers	Brain Anterior Caudate	brain
13	chr6:13067200-13068800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:13067400-13069400	Weak transcription	NHDF-Ad	bronchial
15	chr6:13067400-13071600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:13067400-13075800	Weak transcription	Pancreas	Pancrea
17	chr6:13068000-13068600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:13068000-13068600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:13068000-13068600	Enhancers	Left Ventricle	heart
20	chr6:13068000-13068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:13068000-13071000	Enhancers	Fetal Heart	heart
22	chr6:13068200-13069000	Enhancers	Right Ventricle	heart
23	chr6:13068200-13069400	Enhancers	HUVEC	blood vessel

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