Variant report

Variant	rs60442043
Chromosome Location	chr12:123487452-123487453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123486616..123489052-chr12:123494340..123498590,3	K562	blood:
2	chr12:123486593..123489135-chr12:123506316..123509086,2	MCF-7	breast:
3	chr12:123452570..123455545-chr12:123485965..123487801,2	K562	blood:

Variant related genes	Relation type
ENSG00000265526	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs57143069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57190557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58463629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AMR][1000 genomes]
rs59312127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817665	0.85[AFR][1000 genomes]
rs61685353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408811	1.00[AMR][1000 genomes]
rs73408817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417352	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
2	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
3	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
4	chr12:123469400-123491600	Weak transcription	HMEC	breast
5	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
6	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
9	chr12:123469800-123491600	Weak transcription	Osteobl	bone
10	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
12	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
13	chr12:123472400-123491400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:123472600-123492800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:123472800-123494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:123473200-123489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:123473200-123489400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:123473200-123491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:123473400-123501000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:123473800-123492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:123473800-123500800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:123475600-123491400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:123479800-123489400	Weak transcription	A549	lung
25	chr12:123480800-123487600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:123481400-123491800	Weak transcription	HepG2	liver
27	chr12:123481800-123492600	Weak transcription	Primary B cells from cord blood	blood
28	chr12:123482000-123489000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:123482200-123488800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:123482400-123489600	Weak transcription	NHEK	skin
31	chr12:123482800-123488800	Weak transcription	Gastric	stomach
32	chr12:123483000-123488800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:123483000-123488800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:123483200-123496800	Weak transcription	Psoas Muscle	Psoas
35	chr12:123484400-123492800	Weak transcription	Brain Substantia Nigra	brain
36	chr12:123485000-123488800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:123485000-123488800	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:123485200-123488800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:123485200-123496200	Strong transcription	Fetal Thymus	thymus
40	chr12:123485400-123489000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:123485600-123487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:123485600-123488200	Weak transcription	Colonic Mucosa	Colon
43	chr12:123485600-123488800	Weak transcription	Aorta	Aorta
44	chr12:123485600-123488800	Weak transcription	Pancreas	Pancrea
45	chr12:123485600-123488800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:123485600-123489000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:123485600-123489600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:123485600-123495600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:123485800-123487800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:123485800-123487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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