Variant report

Variant	rs60758807
Chromosome Location	chr3:53809431-53809432
allele	C/T
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:
2	chr3:53809127..53812085-chr3:53878579..53880876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000056736	Chromatin interaction
ENSG00000016391	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13316067	0.82[EUR][1000 genomes]
rs3774593	0.92[AMR][1000 genomes]
rs41276543	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61616709	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7652251	0.82[EUR][1000 genomes];1.00[ASN][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:41 , 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	chr3:53807400-53819200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:53807600-53810400	Weak transcription	NH-A	brain
9	chr3:53807600-53814800	Weak transcription	Right Atrium	heart
10	chr3:53807600-53829800	Weak transcription	Brain Angular Gyrus	brain
11	chr3:53808000-53815800	Strong transcription	Fetal Lung	lung
12	chr3:53808200-53809800	Weak transcription	Esophagus	oesophagus
13	chr3:53808200-53809800	Weak transcription	HMEC	breast
14	chr3:53808200-53810200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:53808200-53810200	Weak transcription	Fetal Stomach	stomach
16	chr3:53808200-53810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:53808200-53814800	Weak transcription	Brain Anterior Caudate	brain
18	chr3:53808200-53817600	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:53808200-53818400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:53808200-53827800	Strong transcription	Fetal Intestine Small	intestine
21	chr3:53808400-53809600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:53808400-53809800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:53808400-53809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:53808400-53809800	Weak transcription	Osteobl	bone
25	chr3:53808400-53810000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:53808400-53810000	Weak transcription	Ovary	ovary
27	chr3:53808400-53810400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:53808400-53814800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:53808600-53809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:53808600-53809800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:53808600-53810800	Weak transcription	Fetal Thymus	thymus
32	chr3:53808800-53809800	Weak transcription	Lung	lung
33	chr3:53808800-53809800	Weak transcription	NHLF	lung
34	chr3:53808800-53810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:53808800-53810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:53808800-53810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:53808800-53830200	Weak transcription	Pancreas	Pancrea
38	chr3:53809200-53809600	Weak transcription	Liver	Liver
39	chr3:53809400-53810000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:53809400-53811400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:53809400-53824400	Strong transcription	Fetal Intestine Large	intestine

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