Variant report

Variant	rs2554039
Chromosome Location	chr15:57978648-57978649
allele	C/T
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	IRF1	chr15:57978517-57978785	K562	blood:	n/a	chr15:57978647-57978660 chr15:57978645-57978659 chr15:57978647-57978660 chr15:57978641-57978661 chr15:57978647-57978660 chr15:57978647-57978660 chr15:57978646-57978660 chr15:57978643-57978664

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57976708..57979222-chr15:57980893..57983839,2	K562	blood:
2	chr15:57978162..57980432-chr15:57997971..58000164,3	K562	blood:

Variant related genes	Relation type
GCOM1	TF binding region
ENSG00000137878	Chromatin interaction
ENSG00000255529	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10162937	1.00[AMR][1000 genomes]
rs2554025	1.00[AMR][1000 genomes]
rs2554029	1.00[AMR][1000 genomes]
rs2733600	1.00[AMR][1000 genomes]
rs2733605	1.00[AMR][1000 genomes]
rs2733609	1.00[AMR][1000 genomes]
rs2733614	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57933400-57982600	Weak transcription	Esophagus	oesophagus
2	chr15:57959600-57982600	Weak transcription	Lung	lung
3	chr15:57960800-57985000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:57968200-57983600	Weak transcription	Gastric	stomach
5	chr15:57973000-57984600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:57975600-57982600	Weak transcription	Right Atrium	heart
7	chr15:57975600-57986600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:57975800-57986400	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:57976800-57979200	Enhancers	Aorta	Aorta
10	chr15:57977200-57978800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:57977200-57979200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:57977200-57982600	Weak transcription	Adipose Nuclei	Adipose
13	chr15:57977200-57984800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:57977400-57982600	Weak transcription	Pancreas	Pancrea
15	chr15:57977600-57978800	Enhancers	Osteobl	bone
16	chr15:57978000-57979200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:57978000-57979200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr15:57978000-57979200	Enhancers	Fetal Intestine Small	intestine
19	chr15:57978200-57978800	Enhancers	Right Ventricle	heart
20	chr15:57978200-57983600	Weak transcription	Spleen	Spleen
21	chr15:57978400-57978800	Enhancers	Fetal Heart	heart
22	chr15:57978400-57978800	Active TSS	NHDF-Ad	bronchial
23	chr15:57978400-57979000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:57978400-57982400	Weak transcription	Left Ventricle	heart
25	chr15:57978400-57983800	Weak transcription	Fetal Kidney	kidney
26	chr15:57978400-57984600	Weak transcription	Fetal Stomach	stomach
27	chr15:57978400-57985000	Weak transcription	Fetal Intestine Large	intestine
28	chr15:57978600-57979000	Weak transcription	Ovary	ovary

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