Variant report

Variant	rs58490197
Chromosome Location	chr15:75523010-75523011
allele	A/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	RXRA	chr15:75522979-75523269	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXP2	chr15:75522960-75523367	PFSK-1	brain:	n/a	n/a
3	SRF	chr15:75522839-75523020	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75515217..75518396-chr15:75522924..75526140,3	K562	blood:
2	chr15:75522456..75523969-chr15:75524472..75527173,2	K562	blood:
3	chr15:75306128..75307779-chr15:75522303..75524360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260660	TF binding region
ENSG00000264950	Chromatin interaction
ENSG00000260660	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58184881	1.00[AMR][1000 genomes]
rs61106563	1.00[AMR][1000 genomes]
rs73443253	0.94[AFR][1000 genomes]
rs73443264	1.00[AMR][1000 genomes]
rs73443272	1.00[AMR][1000 genomes]
rs73443281	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv569995	chr15:75493823-75537475	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv569996	chr15:75493823-75540491	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv904385	chr15:75493823-75546700	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription 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 miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
11	nsv977736	chr15:75509295-75632679	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75508200-75524600	Weak transcription	Spleen	Spleen
2	chr15:75519400-75528800	Weak transcription	Right Atrium	heart
3	chr15:75520200-75525000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:75521200-75529800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:75521400-75523600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:75521400-75524800	Enhancers	Placenta	Placenta
7	chr15:75521800-75523200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:75521800-75523200	Enhancers	NHDF-Ad	bronchial
9	chr15:75521800-75523400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:75522200-75523200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:75522200-75523400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:75522400-75523200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr15:75522400-75523200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr15:75522400-75523400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:75522400-75523400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:75522600-75523200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr15:75522600-75523200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:75522600-75523200	Enhancers	HSMMtube	muscle
19	chr15:75522600-75523400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:75522600-75523400	Bivalent Enhancer	HepG2	liver
21	chr15:75522800-75523400	Enhancers	Adipose Nuclei	Adipose
22	chr15:75523000-75523200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:75523000-75523200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr15:75523000-75523200	Enhancers	A549	lung
25	chr15:75523000-75523400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:75523000-75523400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:75523000-75523400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:75523000-75523400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:75523000-75523400	Enhancers	Left Ventricle	heart
30	chr15:75523000-75523400	Enhancers	Lung	lung
31	chr15:75523000-75523400	Enhancers	Right Ventricle	heart

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