Variant report

Variant	rs60817665
Chromosome Location	chr12:123525779-123525780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
2	chr12:123523014..123525784-chr12:123547595..123549554,2	MCF-7	breast:
3	chr12:123525729..123528577-chr12:123717047..123721067,3	MCF-7	breast:
4	chr12:123525430..123528340-chr12:123721388..123723225,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs57143069	0.85[AFR][1000 genomes]
rs57190557	0.85[AFR][1000 genomes]
rs57530745	0.85[AFR][1000 genomes]
rs58251569	0.85[AFR][1000 genomes]
rs58283587	0.85[AFR][1000 genomes]
rs58463629	0.85[AFR][1000 genomes]
rs59312127	0.85[AFR][1000 genomes]
rs60052793	0.85[AFR][1000 genomes]
rs60442043	0.85[AFR][1000 genomes]
rs60543890	0.85[AFR][1000 genomes]
rs60726563	0.85[AFR][1000 genomes]
rs61685353	0.85[AFR][1000 genomes]
rs73408808	0.85[AFR][1000 genomes]
rs73408817	0.85[AFR][1000 genomes]
rs73408823	0.85[AFR][1000 genomes]
rs73408840	0.85[AFR][1000 genomes]
rs73408867	0.85[AFR][1000 genomes]
rs73408884	0.85[AFR][1000 genomes]
rs73408885	0.85[AFR][1000 genomes]
rs73408886	0.85[AFR][1000 genomes]
rs73408898	0.85[AFR][1000 genomes]
rs73411020	0.85[AFR][1000 genomes]
rs73411029	0.85[AFR][1000 genomes]
rs73411039	0.85[AFR][1000 genomes]
rs73411046	0.85[AFR][1000 genomes]
rs73411050	0.85[AFR][1000 genomes]
rs73411070	0.85[AFR][1000 genomes]
rs73411082	0.85[AFR][1000 genomes]
rs73411085	0.85[AFR][1000 genomes]
rs73411096	0.85[AFR][1000 genomes]
rs73411101	0.85[AFR][1000 genomes]
rs73413207	0.85[AFR][1000 genomes]
rs73413234	0.85[AFR][1000 genomes]
rs73413271	0.85[AFR][1000 genomes]
rs73413279	0.85[AFR][1000 genomes]
rs73413285	0.85[AFR][1000 genomes]
rs73417309	0.85[AFR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
2	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:123497400-123528600	Weak transcription	Ovary	ovary
6	chr12:123497800-123526000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:123504200-123528000	Weak transcription	HMEC	breast
8	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
9	chr12:123507400-123526000	Genic enhancers	Fetal Thymus	thymus
10	chr12:123509800-123530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:123511400-123528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:123516400-123527400	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:123516600-123527800	Weak transcription	Stomach Mucosa	stomach
14	chr12:123517800-123526800	Weak transcription	Fetal Heart	heart
15	chr12:123517800-123527200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:123518000-123526400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:123518200-123527600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:123518200-123528000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:123518200-123535600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:123518400-123527200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:123518400-123527200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:123518400-123533600	Weak transcription	Aorta	Aorta
23	chr12:123518800-123526000	Weak transcription	Placenta	Placenta
24	chr12:123518800-123526400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:123518800-123527400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:123518800-123528200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:123518800-123540600	Weak transcription	HepG2	liver
28	chr12:123519000-123526200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:123519000-123526400	Weak transcription	Pancreas	Pancrea
30	chr12:123519000-123526600	Weak transcription	Fetal Intestine Large	intestine
31	chr12:123519000-123527400	Weak transcription	Colonic Mucosa	Colon
32	chr12:123519000-123527400	Weak transcription	Spleen	Spleen
33	chr12:123519000-123527800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:123519000-123528200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:123519000-123528200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:123519000-123540400	Weak transcription	Gastric	stomach
37	chr12:123519000-123543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:123519200-123525800	Weak transcription	Fetal Intestine Small	intestine
39	chr12:123519200-123526400	Weak transcription	Lung	lung
40	chr12:123519200-123526600	Weak transcription	Right Ventricle	heart
41	chr12:123519200-123527800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:123519200-123527800	Weak transcription	Primary B cells from cord blood	blood
43	chr12:123519200-123527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:123519400-123526400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:123519400-123526600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:123519400-123526600	Weak transcription	Right Atrium	heart
47	chr12:123519400-123527600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:123519400-123528200	Weak transcription	Brain Angular Gyrus	brain
49	chr12:123519400-123528200	Weak transcription	Fetal Brain Female	brain
50	chr12:123519600-123526400	Weak transcription	Esophagus	oesophagus

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