Variant report

Variant	rs58463629
Chromosome Location	chr12:123608753-123608754
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	chr12:123606578..123609503-chr12:123615590..123618245,2	MCF-7	breast:
2	chr12:123603321..123605934-chr12:123608527..123611657,3	K562	blood:

Extended variants
information (count: 48 )
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]
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]
rs60442043	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:6 , 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	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
3	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
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123592800-123611200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
3	chr12:123595200-123610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123597800-123610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:123599200-123624600	Weak transcription	Fetal Brain Female	brain
6	chr12:123600000-123611200	Weak transcription	Aorta	Aorta
7	chr12:123600600-123610600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:123600600-123610800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:123600600-123610800	Weak transcription	Fetal Intestine Small	intestine
10	chr12:123600600-123610800	Weak transcription	Stomach Mucosa	stomach
11	chr12:123600600-123611000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:123600600-123611000	Weak transcription	Small Intestine	intestine
13	chr12:123601000-123610600	Weak transcription	Osteobl	bone
14	chr12:123601400-123611000	Weak transcription	Psoas Muscle	Psoas
15	chr12:123601600-123615800	Weak transcription	Pancreas	Pancrea
16	chr12:123602800-123610800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:123602800-123610800	Weak transcription	Fetal Heart	heart
18	chr12:123605000-123616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:123605400-123610600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:123605600-123610800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:123605800-123610600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:123605800-123610600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:123605800-123610600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:123605800-123610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:123605800-123610600	Weak transcription	Fetal Stomach	stomach
26	chr12:123605800-123610600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:123605800-123610600	Weak transcription	K562	blood
28	chr12:123605800-123610800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:123605800-123610800	Weak transcription	Fetal Intestine Large	intestine
30	chr12:123605800-123610800	Weak transcription	Right Ventricle	heart
31	chr12:123605800-123610800	Weak transcription	Spleen	Spleen
32	chr12:123605800-123611000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:123605800-123614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:123605800-123624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:123606000-123609800	Weak transcription	NHDF-Ad	bronchial
36	chr12:123606000-123610000	Weak transcription	Placenta	Placenta
37	chr12:123606000-123610600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:123606000-123610600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:123606000-123610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:123606000-123610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:123606000-123610600	Weak transcription	Adipose Nuclei	Adipose
42	chr12:123606000-123610600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:123606000-123610600	Weak transcription	HSMM	muscle
44	chr12:123606000-123610600	Weak transcription	NHEK	skin
45	chr12:123606000-123610600	Weak transcription	NHLF	lung
46	chr12:123606000-123610800	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:123606000-123610800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:123606000-123610800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:123606000-123610800	Weak transcription	HSMMtube	muscle
50	chr12:123606000-123614600	Weak transcription	Colonic Mucosa	Colon

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