Variant report

Variant	rs5745808
Chromosome Location	chr12:118456500-118456501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr12:118453241..118455351-chr12:118455702..118457982,2	MCF-7	breast:
4	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
5	chr12:118404870..118409245-chr12:118453149..118456741,6	MCF-7	breast:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11068779	0.80[AMR][1000 genomes]
rs12313999	0.80[AMR][1000 genomes]
rs12578639	0.83[AMR][1000 genomes]
rs12580039	0.96[ASN][1000 genomes]
rs12582265	0.84[AMR][1000 genomes]
rs55973710	0.83[AMR][1000 genomes]
rs5745792	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5745806	0.83[AFR][1000 genomes]
rs5745807	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745817	0.83[AFR][1000 genomes]
rs5745820	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745821	0.83[AFR][1000 genomes]
rs57493385	0.86[AMR][1000 genomes]
rs58639682	0.83[AMR][1000 genomes]
rs60777883	0.83[AMR][1000 genomes]
rs61094951	0.83[AMR][1000 genomes]
rs7485548	0.84[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	chr12:118455000-118457800	Weak transcription	Aorta	Aorta
2	chr12:118455200-118457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:118455200-118457000	Weak transcription	Right Ventricle	heart
4	chr12:118455200-118457200	Weak transcription	Gastric	stomach
5	chr12:118455200-118457200	Weak transcription	Left Ventricle	heart
6	chr12:118455200-118457200	Weak transcription	Lung	lung
7	chr12:118455200-118457200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:118455200-118457400	Weak transcription	Esophagus	oesophagus
9	chr12:118455200-118462400	Weak transcription	Psoas Muscle	Psoas
10	chr12:118455200-118472800	Weak transcription	Right Atrium	heart
11	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:118455400-118457000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:118455400-118457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:118455400-118457000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:118455400-118457000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:118455400-118457000	Weak transcription	Placenta	Placenta
17	chr12:118455400-118457000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:118455400-118457200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:118455400-118457200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:118455400-118457200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:118455400-118457200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:118455400-118457200	Weak transcription	Pancreas	Pancrea
23	chr12:118455400-118457200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:118455400-118457200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:118455400-118457200	Weak transcription	Spleen	Spleen
26	chr12:118455400-118457400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:118455400-118457400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:118455600-118456600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:118455600-118456600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:118455600-118456800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:118455600-118456800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:118455600-118457000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:118455600-118457000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:118455600-118457000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:118455600-118457200	Weak transcription	Ovary	ovary
36	chr12:118455600-118457400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:118455600-118457600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:118455600-118457600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:118455600-118458800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:118455600-118460400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:118455600-118461000	Weak transcription	HSMM	muscle
42	chr12:118455600-118462600	Weak transcription	HSMMtube	muscle
43	chr12:118455600-118462800	Weak transcription	NH-A	brain
44	chr12:118455600-118490200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:118455800-118456600	Weak transcription	Primary T cells from cord blood	blood
46	chr12:118455800-118456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:118455800-118456600	Weak transcription	Fetal Brain Female	brain
48	chr12:118455800-118456600	Weak transcription	Fetal Thymus	thymus
49	chr12:118455800-118456800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:118455800-118456800	Weak transcription	Primary B cells from peripheral blood	blood

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