Variant report

Variant	rs58824032
Chromosome Location	chr12:58258767-58258768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58257328..58259688-chr12:58290813..58293614,3	MCF-7	breast:
2	chr12:58257823..58260451-chr12:58297439..58299655,2	MCF-7	breast:
3	chr12:58256926..58259595-chr12:58266193..58268490,2	K562	blood:
4	chr12:58254019..58259551-chr12:58280629..58287945,9	MCF-7	breast:
5	chr12:58257612..58259236-chr12:58293224..58296608,3	MCF-7	breast:
6	chr12:58255940..58258991-chr12:58263646..58265441,3	K562	blood:
7	chr12:58237213..58243657-chr12:58255578..58259317,18	MCF-7	breast:
8	chr12:58257274..58258886-chr12:58300029..58301965,2	MCF-7	breast:
9	chr12:58258378..58259324-chr2:88315828..88316518,2	Hela-S3	cervix:
10	chr12:58251247..58254157-chr12:58257386..58260333,2	K562	blood:
11	chr12:58206839..58209461-chr12:58258258..58260361,2	MCF-7	breast:
12	chr12:58258685..58259470-chr21:44299164..44299803,2	Hela-S3	cervix:
13	chr12:58257740..58261779-chr12:58273700..58278459,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175215	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000245651	Chromatin interaction
ENSG00000269903	Chromatin interaction
ENSG00000160193	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000135407	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs34299538	1.00[AMR][1000 genomes]
rs55849950	1.00[AMR][1000 genomes]
rs56318011	1.00[AMR][1000 genomes]
rs59476756	1.00[AMR][1000 genomes]
rs73334082	1.00[AMR][1000 genomes]
rs73335910	1.00[AMR][1000 genomes]
rs73338222	1.00[AMR][1000 genomes]
rs73338246	1.00[AMR][1000 genomes]
rs73338249	1.00[AMR][1000 genomes]
rs73338250	1.00[AMR][1000 genomes]
rs73338252	1.00[AMR][1000 genomes]
rs73349954	1.00[AMR][1000 genomes]
rs74094487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58255400-58258800	Enhancers	HMEC	breast
2	chr12:58256000-58259000	Weak transcription	Gastric	stomach
3	chr12:58256400-58264600	Weak transcription	Spleen	Spleen
4	chr12:58257000-58260000	Enhancers	Fetal Brain Male	brain
5	chr12:58257200-58258800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:58257600-58258800	Enhancers	Placenta	Placenta
7	chr12:58257600-58258800	Enhancers	Left Ventricle	heart
8	chr12:58257600-58258800	Enhancers	Lung	lung
9	chr12:58257600-58258800	Enhancers	Psoas Muscle	Psoas
10	chr12:58257600-58258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:58257600-58259600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:58258000-58258800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr12:58258000-58258800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:58258000-58258800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:58258000-58258800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:58258000-58258800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr12:58258000-58258800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:58258000-58258800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:58258000-58258800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:58258000-58258800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:58258000-58258800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:58258000-58258800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:58258000-58258800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:58258000-58258800	Bivalent Enhancer	Fetal Thymus	thymus
25	chr12:58258000-58258800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:58258000-58258800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:58258000-58258800	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr12:58258000-58258800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr12:58258000-58258800	Flanking Active TSS	NHDF-Ad	bronchial
30	chr12:58258000-58258800	Flanking Active TSS	NHLF	lung
31	chr12:58258000-58259000	Flanking Active TSS	HSMMtube	muscle
32	chr12:58258200-58258800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:58258200-58258800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:58258200-58258800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:58258200-58258800	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr12:58258200-58258800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr12:58258200-58258800	Enhancers	Esophagus	oesophagus
38	chr12:58258200-58258800	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr12:58258200-58258800	Flanking Active TSS	A549	lung
40	chr12:58258200-58258800	Flanking Active TSS	Hela-S3	cervix
41	chr12:58258200-58259000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:58258200-58259000	Flanking Active TSS	Osteobl	bone
43	chr12:58258200-58259400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:58258400-58258800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
45	chr12:58258400-58258800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:58258400-58258800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:58258400-58258800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr12:58258400-58258800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:58258400-58258800	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr12:58258400-58258800	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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