Variant report

Variant	rs45474292
Chromosome Location	chr10:97009508-97009509
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	POLR2A	chr10:97009423-97009721	A549	lung:	n/a	n/a
2	CTCF	chr10:97009400-97009550	GM12871	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97007670..97009998-chr10:97020607..97023208,2	K562	blood:
2	chr10:97004348..97006901-chr10:97009361..97013623,3	MCF-7	breast:
3	chr10:97003964..97007161-chr10:97008382..97011315,3	K562	blood:
4	chr10:97009240..97011138-chr10:97013509..97015080,2	MCF-7	breast:

Variant related genes	Relation type
PDLIM1	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1041268	1.00[AMR][1000 genomes]
rs11188288	1.00[AMR][1000 genomes]
rs11816964	1.00[AMR][1000 genomes]
rs12241332	1.00[AMR][1000 genomes]
rs12256339	1.00[AMR][1000 genomes]
rs45507796	1.00[EUR][1000 genomes]
rs45576435	1.00[EUR][1000 genomes]
rs45598237	1.00[EUR][1000 genomes]
rs45598537	1.00[EUR][1000 genomes]
rs73317213	1.00[EUR][1000 genomes]
rs73319253	1.00[AMR][1000 genomes]
rs73319257	1.00[AMR][1000 genomes]
rs73319270	1.00[AMR][1000 genomes]
rs73319274	1.00[AMR][1000 genomes]
rs73319275	1.00[AMR][1000 genomes]
rs73319278	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:96996400-97016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:97000400-97024400	Weak transcription	Fetal Kidney	kidney
7	chr10:97004800-97009800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:97005600-97011000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:97005600-97011800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:97006200-97011400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
11	chr10:97006200-97017600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:97006400-97009600	Enhancers	NHDF-Ad	bronchial
13	chr10:97006400-97019600	Weak transcription	K562	blood
14	chr10:97006600-97009600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:97006600-97010000	Enhancers	Right Atrium	heart
16	chr10:97006600-97010000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr10:97006800-97009800	Genic enhancers	GM12878-XiMat	blood
18	chr10:97007000-97009800	Enhancers	Fetal Heart	heart
19	chr10:97007000-97026400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:97007200-97012200	Strong transcription	Fetal Stomach	stomach
21	chr10:97007200-97013000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr10:97007600-97009800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:97007600-97009800	Genic enhancers	Spleen	Spleen
24	chr10:97007600-97014000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:97007600-97020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:97007800-97012200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr10:97007800-97012200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr10:97007800-97020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:97008000-97009600	Genic enhancers	NHEK	skin
30	chr10:97008000-97009800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:97008000-97010600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:97008000-97016000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:97008000-97016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:97008000-97016600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:97008000-97019400	Weak transcription	Placenta	Placenta
36	chr10:97008000-97020200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:97008200-97009800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:97008200-97010000	Genic enhancers	NHLF	lung
39	chr10:97008200-97011600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:97008200-97012800	Weak transcription	Stomach Mucosa	stomach
41	chr10:97008200-97017800	Weak transcription	Osteobl	bone
42	chr10:97008400-97009600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:97008400-97009800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr10:97008400-97009800	Genic enhancers	Left Ventricle	heart
45	chr10:97008400-97009800	Genic enhancers	Lung	lung
46	chr10:97008400-97010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:97008600-97009600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr10:97008600-97009800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:97008600-97009800	Enhancers	Adipose Nuclei	Adipose
50	chr10:97008600-97010000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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