Variant report

Variant	rs5745804
Chromosome Location	chr12:118456162-118456163
allele	A/T
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118455151..118457113-chr12:118475615..118477971,2	MCF-7	breast:
2	chr12:118405835..118408999-chr12:118453081..118456822,7	MCF-7	breast:
3	chr12:118311233..118313937-chr12:118454547..118456173,3	K562	blood:
4	chr12:118453241..118455351-chr12:118455702..118457982,2	MCF-7	breast:
5	chr12:118454560..118456194-chr12:118498306..118500931,2	MCF-7	breast:
6	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
7	chr12:118404870..118409245-chr12:118453149..118456741,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171435	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000111445	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5745851	1.00[AMR][1000 genomes]
rs5745867	0.85[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	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118454400-118456200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:118455000-118457800	Weak transcription	Aorta	Aorta
3	chr12:118455200-118456200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:118455200-118456200	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:118455200-118456200	Transcr. at gene 5' and 3'	K562	blood
6	chr12:118455200-118457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:118455200-118457000	Weak transcription	Right Ventricle	heart
8	chr12:118455200-118457200	Weak transcription	Gastric	stomach
9	chr12:118455200-118457200	Weak transcription	Left Ventricle	heart
10	chr12:118455200-118457200	Weak transcription	Lung	lung
11	chr12:118455200-118457200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:118455200-118457400	Weak transcription	Esophagus	oesophagus
13	chr12:118455200-118462400	Weak transcription	Psoas Muscle	Psoas
14	chr12:118455200-118472800	Weak transcription	Right Atrium	heart
15	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:118455400-118456200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:118455400-118456200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:118455400-118456200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:118455400-118456200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:118455400-118456400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:118455400-118457000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:118455400-118457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:118455400-118457000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:118455400-118457000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:118455400-118457000	Weak transcription	Placenta	Placenta
26	chr12:118455400-118457000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:118455400-118457200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:118455400-118457200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:118455400-118457200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:118455400-118457200	Weak transcription	Brain Anterior Caudate	brain
31	chr12:118455400-118457200	Weak transcription	Pancreas	Pancrea
32	chr12:118455400-118457200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:118455400-118457200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:118455400-118457200	Weak transcription	Spleen	Spleen
35	chr12:118455400-118457400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:118455400-118457400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:118455600-118456200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:118455600-118456200	Transcr. at gene 5' and 3'	Hela-S3	cervix
39	chr12:118455600-118456200	Enhancers	HMEC	breast
40	chr12:118455600-118456400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:118455600-118456600	Weak transcription	Primary B cells from cord blood	blood
42	chr12:118455600-118456600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:118455600-118456800	Weak transcription	Adipose Nuclei	Adipose
44	chr12:118455600-118456800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:118455600-118457000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:118455600-118457000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:118455600-118457000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:118455600-118457200	Weak transcription	Ovary	ovary
49	chr12:118455600-118457400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:118455600-118457600	Weak transcription	Primary monocytes fromperipheralblood	blood

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