Variant report

Variant	rs57119348
Chromosome Location	chr15:44607461-44607462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:44607422-44607635	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000203574	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12324129	1.00[AMR][1000 genomes]
rs12324372	1.00[AMR][1000 genomes]
rs2615264	1.00[AMR][1000 genomes]
rs56719500	1.00[AMR][1000 genomes]
rs57459307	1.00[AMR][1000 genomes]
rs58758000	1.00[AMR][1000 genomes]
rs59261301	1.00[AMR][1000 genomes]
rs8041448	1.00[AMR][1000 genomes]
rs9972380	1.00[AMR][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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44582000-44639400	Weak transcription	Lung	lung
2	chr15:44582800-44672200	Weak transcription	HSMM	muscle
3	chr15:44583000-44639400	Weak transcription	Fetal Lung	lung
4	chr15:44583200-44639200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr15:44583800-44639200	Weak transcription	Brain Germinal Matrix	brain
6	chr15:44584200-44625600	Weak transcription	Fetal Brain Female	brain
7	chr15:44585400-44628200	Weak transcription	Thymus	Thymus
8	chr15:44589000-44619000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:44589000-44631600	Weak transcription	Left Ventricle	heart
10	chr15:44589200-44626400	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:44589400-44607600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:44589600-44617400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:44589800-44625200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:44589800-44632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:44589800-44632400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:44589800-44632400	Weak transcription	NHLF	lung
17	chr15:44591400-44632800	Weak transcription	Hela-S3	cervix
18	chr15:44592800-44617600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:44592800-44639800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:44593200-44621200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:44593200-44625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:44593200-44639200	Weak transcription	K562	blood
23	chr15:44593200-44639400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:44593600-44621200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:44593800-44607800	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:44593800-44613200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:44593800-44639400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:44595200-44631600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:44597200-44610800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:44597800-44613200	Weak transcription	Fetal Stomach	stomach
31	chr15:44597800-44623200	Weak transcription	Fetal Intestine Small	intestine
32	chr15:44598400-44628600	Weak transcription	Primary T cells from cord blood	blood
33	chr15:44598600-44646800	Weak transcription	Right Ventricle	heart
34	chr15:44599600-44632600	Weak transcription	HSMMtube	muscle
35	chr15:44600800-44632400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:44601000-44620800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:44601000-44624800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:44601200-44621200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:44601600-44617400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:44601600-44638600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:44602200-44614000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:44602200-44629200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:44602200-44638400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:44602400-44621000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:44602400-44639400	Weak transcription	Gastric	stomach
46	chr15:44602400-44639600	Weak transcription	Pancreas	Pancrea
47	chr15:44603200-44629200	Weak transcription	Primary B cells from cord blood	blood
48	chr15:44603600-44624800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:44604400-44609000	Weak transcription	GM12878-XiMat	blood
50	chr15:44605400-44609600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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