Variant report

Variant	rs13068596
Chromosome Location	chr3:53809022-53809023
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	chr3:53804033..53806635-chr3:53807330..53809774,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10510766	0.87[EUR][1000 genomes]
rs11720848	0.81[AMR][1000 genomes]
rs35146621	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35484438	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3774574	0.80[AMR][1000 genomes]
rs3774581	0.82[EUR][1000 genomes]
rs3774583	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3774592	0.84[EUR][1000 genomes]
rs3774594	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3774595	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53785000-53811200	Weak transcription	Spleen	Spleen
2	chr3:53789800-53814600	Weak transcription	Brain Substantia Nigra	brain
3	chr3:53802400-53818200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:53805000-53810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:53806200-53811800	Enhancers	NHDF-Ad	bronchial
6	chr3:53806800-53813000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:53807200-53809400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:53807400-53819200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:53807600-53809400	Weak transcription	Fetal Intestine Large	intestine
10	chr3:53807600-53810400	Weak transcription	NH-A	brain
11	chr3:53807600-53814800	Weak transcription	Right Atrium	heart
12	chr3:53807600-53829800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:53808000-53815800	Strong transcription	Fetal Lung	lung
14	chr3:53808200-53809200	Enhancers	Liver	Liver
15	chr3:53808200-53809800	Weak transcription	Esophagus	oesophagus
16	chr3:53808200-53809800	Weak transcription	HMEC	breast
17	chr3:53808200-53810200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:53808200-53810200	Weak transcription	Fetal Stomach	stomach
19	chr3:53808200-53810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:53808200-53814800	Weak transcription	Brain Anterior Caudate	brain
21	chr3:53808200-53817600	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:53808200-53818400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:53808200-53827800	Strong transcription	Fetal Intestine Small	intestine
24	chr3:53808400-53809600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:53808400-53809800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:53808400-53809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:53808400-53809800	Weak transcription	Osteobl	bone
28	chr3:53808400-53810000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:53808400-53810000	Weak transcription	Ovary	ovary
30	chr3:53808400-53810400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:53808400-53814800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:53808600-53809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:53808600-53809800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:53808600-53810800	Weak transcription	Fetal Thymus	thymus
35	chr3:53808800-53809400	Enhancers	GM12878-XiMat	blood
36	chr3:53808800-53809800	Weak transcription	Lung	lung
37	chr3:53808800-53809800	Weak transcription	NHLF	lung
38	chr3:53808800-53810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:53808800-53810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:53808800-53810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:53808800-53830200	Weak transcription	Pancreas	Pancrea
42	chr3:53809000-53809400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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