Variant report

Variant	rs58204235
Chromosome Location	chr16:48157136-48157137
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	chr16:48155501..48157445-chr16:48159306..48161176,2	MCF-7	breast:
2	chr16:47176430..47179232-chr16:48155249..48159394,3	K562	blood:

Variant related genes	Relation type
ENSG00000171208	Chromatin interaction
ENSG00000260281	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11861448	1.00[EUR][1000 genomes]
rs11864016	1.00[EUR][1000 genomes]
rs11864570	1.00[EUR][1000 genomes]
rs12103132	1.00[EUR][1000 genomes]
rs13330281	1.00[EUR][1000 genomes]
rs13330882	1.00[EUR][1000 genomes]
rs13331266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333718	1.00[EUR][1000 genomes]
rs13334423	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334475	1.00[EUR][1000 genomes]
rs13335010	1.00[EUR][1000 genomes]
rs1345425	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945786	1.00[EUR][1000 genomes]
rs16945813	1.00[EUR][1000 genomes]
rs16945816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945824	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945828	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945831	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945835	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945860	1.00[EUR][1000 genomes]
rs2016940	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28431782	1.00[EUR][1000 genomes]
rs28526661	1.00[EUR][1000 genomes]
rs28531369	1.00[EUR][1000 genomes]
rs28587611	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28592871	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28669266	1.00[EUR][1000 genomes]
rs34106426	1.00[EUR][1000 genomes]
rs4785405	1.00[EUR][1000 genomes]
rs56093600	1.00[EUR][1000 genomes]
rs57124014	1.00[EUR][1000 genomes]
rs57432729	1.00[EUR][1000 genomes]
rs57740199	1.00[EUR][1000 genomes]
rs58622309	1.00[EUR][1000 genomes]
rs59311846	1.00[EUR][1000 genomes]
rs59312258	1.00[EUR][1000 genomes]
rs59466391	1.00[EUR][1000 genomes]
rs59528776	1.00[EUR][1000 genomes]
rs59766379	1.00[EUR][1000 genomes]
rs59832329	1.00[EUR][1000 genomes]
rs59966196	1.00[EUR][1000 genomes]
rs6500304	1.00[EUR][1000 genomes]
rs6500305	1.00[EUR][1000 genomes]
rs7187069	1.00[EUR][1000 genomes]
rs7197701	1.00[EUR][1000 genomes]
rs7203314	1.00[EUR][1000 genomes]
rs73540833	1.00[EUR][1000 genomes]
rs73540845	1.00[EUR][1000 genomes]
rs73540853	1.00[EUR][1000 genomes]
rs74018249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018255	1.00[EUR][1000 genomes]
rs8046592	1.00[EUR][1000 genomes]
rs8048367	1.00[EUR][1000 genomes]
rs8056553	1.00[EUR][1000 genomes]
rs8058288	1.00[EUR][1000 genomes]
rs9302750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939360	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939362	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs961668	1.00[EUR][1000 genomes]
rs9925287	1.00[EUR][1000 genomes]
rs9926338	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933094	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933277	1.00[EUR][1000 genomes]
rs9935027	1.00[EUR][1000 genomes]
rs9936500	1.00[EUR][1000 genomes]
rs9936532	1.00[EUR][1000 genomes]
rs9938810	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940987	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48146400-48160600	Weak transcription	Right Atrium	heart
2	chr16:48147600-48160600	Weak transcription	Psoas Muscle	Psoas
3	chr16:48151600-48159200	Weak transcription	Right Ventricle	heart
4	chr16:48151800-48158200	Weak transcription	Lung	lung
5	chr16:48152200-48160600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:48152400-48157200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:48153600-48160600	Weak transcription	Pancreas	Pancrea
8	chr16:48155200-48159000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:48155200-48159400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:48155200-48159600	Enhancers	NHDF-Ad	bronchial
11	chr16:48155200-48163200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:48155800-48158200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:48155800-48159000	Enhancers	HMEC	breast
14	chr16:48156000-48158400	Enhancers	NHLF	lung
15	chr16:48156000-48158600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:48156200-48159800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr16:48156400-48158200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:48156400-48158200	Enhancers	NHEK	skin
19	chr16:48156400-48158600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:48156400-48163000	Enhancers	NH-A	brain
21	chr16:48156400-48163200	Enhancers	HSMM	muscle
22	chr16:48156400-48163400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:48156600-48157800	Enhancers	K562	blood
24	chr16:48156600-48158400	Enhancers	Osteobl	bone
25	chr16:48156600-48158600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:48156600-48158600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr16:48156600-48158800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:48156800-48157200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr16:48156800-48157200	Flanking Active TSS	HSMMtube	muscle
30	chr16:48156800-48157600	Enhancers	Hela-S3	cervix
31	chr16:48156800-48157800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:48156800-48157800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr16:48156800-48157800	Enhancers	GM12878-XiMat	blood
34	chr16:48156800-48158000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:48156800-48158000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:48156800-48158000	Flanking Active TSS	A549	lung
37	chr16:48156800-48158000	Enhancers	HUVEC	blood vessel
38	chr16:48156800-48158200	Enhancers	Brain Anterior Caudate	brain
39	chr16:48156800-48158400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:48156800-48158600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:48157000-48157200	Enhancers	Spleen	Spleen
42	chr16:48157000-48157400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:48157000-48157600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:48157000-48158200	Weak transcription	Left Ventricle	heart
45	chr16:48157000-48158400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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