Variant report

Variant	rs58453010
Chromosome Location	chr6:13452233-13452234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13451477..13453744-chr6:13519512..13521827,2	MCF-7	breast:
2	chr6:13451248..13453948-chr6:13613649..13615932,2	MCF-7	breast:
3	chr6:13450822..13452338-chr6:13457314..13458935,2	K562	blood:

Variant related genes	Relation type
ENSG00000225921	Chromatin interaction
ENSG00000218265	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11964734	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2434393	0.83[AMR][1000 genomes]
rs2434394	0.83[AMR][1000 genomes]
rs2494771	0.83[AMR][1000 genomes]
rs2560750	0.83[AMR][1000 genomes]
rs2560751	0.83[AMR][1000 genomes]
rs2560752	0.83[AMR][1000 genomes]
rs2560753	0.83[AMR][1000 genomes]
rs2560816	0.83[AMR][1000 genomes]
rs2560818	0.83[AMR][1000 genomes]
rs2841553	0.83[AMR][1000 genomes]
rs2841554	0.83[AMR][1000 genomes]
rs2841556	0.83[AMR][1000 genomes]
rs2841557	0.83[AMR][1000 genomes]
rs2841558	0.83[AMR][1000 genomes]
rs2841559	0.83[AMR][1000 genomes]
rs59772696	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6931785	0.83[AMR][1000 genomes]
rs73725831	0.83[AMR][1000 genomes]
rs766773	0.83[AMR][1000 genomes]
rs7774411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9382115	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13433000-13454000	Weak transcription	Hela-S3	cervix
2	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:13441600-13454400	Weak transcription	Placenta	Placenta
4	chr6:13445200-13457800	Enhancers	Right Atrium	heart
5	chr6:13445400-13453400	Weak transcription	NH-A	brain
6	chr6:13445400-13454000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:13445400-13454000	Weak transcription	Pancreas	Pancrea
8	chr6:13445600-13454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:13445600-13454200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:13445600-13454800	Weak transcription	K562	blood
11	chr6:13445600-13461800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:13445800-13454200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:13445800-13454600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:13446200-13454000	Weak transcription	Fetal Brain Female	brain
15	chr6:13446200-13454200	Weak transcription	HSMMtube	muscle
16	chr6:13447000-13454000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:13447200-13452400	Weak transcription	Fetal Brain Male	brain
18	chr6:13447200-13454000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:13448200-13458200	Enhancers	Colon Smooth Muscle	Colon
20	chr6:13448600-13454000	Weak transcription	Thymus	Thymus
21	chr6:13448800-13454000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:13448800-13454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:13449000-13453000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:13449000-13453400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:13449000-13453400	Weak transcription	Small Intestine	intestine
26	chr6:13449000-13453800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:13449000-13453800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:13449000-13454000	Weak transcription	Brain Angular Gyrus	brain
29	chr6:13449000-13454000	Weak transcription	Brain Anterior Caudate	brain
30	chr6:13449000-13454400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:13449000-13454400	Weak transcription	Brain Substantia Nigra	brain
32	chr6:13449000-13457200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:13449000-13461800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:13449200-13453800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:13449200-13453800	Weak transcription	HMEC	breast
36	chr6:13449200-13454000	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:13449200-13454000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:13449400-13453800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:13449400-13454000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:13449400-13454000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:13449400-13454000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:13449400-13454000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:13449400-13454200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:13449400-13454200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:13449600-13454000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:13449600-13454000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:13449600-13455800	Weak transcription	Aorta	Aorta
48	chr6:13449800-13454000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:13450000-13453800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:13450200-13453000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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