Variant report

Variant	rs9302280
Chromosome Location	chr15:78184365-78184366
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	SPI1	chr15:78184263-78184537	GM12878	blood:	n/a	chr15:78184434-78184441 chr15:78184349-78184362
2	MAX	chr15:78184293-78184445	GM12878	blood:	n/a	chr15:78184373-78184383

Variant related genes	Relation type
CSPG4P13	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs56945229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57338257	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57412308	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485870	0.90[EUR][1000 genomes]
rs57582825	1.00[EUR][1000 genomes]
rs57790663	1.00[EUR][1000 genomes]
rs57924493	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57992194	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58091502	0.90[EUR][1000 genomes]
rs58790794	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59577817	1.00[ASN][1000 genomes]
rs59836627	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59867122	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59917473	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60998226	0.90[EUR][1000 genomes]
rs61639754	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495256	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6495258	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6495259	0.82[AMR][1000 genomes]
rs6495260	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6495261	0.86[AMR][1000 genomes]
rs73455818	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73455837	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73455838	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73455839	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73455843	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73455844	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73455846	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73467891	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73467892	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73467893	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74029439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029440	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029442	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029451	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029452	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029464	0.90[EUR][1000 genomes]
rs8025910	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8033909	0.90[EUR][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	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv833062	chr15:78035206-78220358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1046383	chr15:78153850-78229596	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904428	chr15:78156238-78230906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78173200-78185600	Enhancers	Fetal Muscle Trunk	muscle
2	chr15:78173800-78186000	Enhancers	Fetal Muscle Leg	muscle
3	chr15:78179000-78185000	Enhancers	HSMMtube	muscle
4	chr15:78179000-78188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:78179400-78184400	Enhancers	HSMM	muscle
6	chr15:78179600-78185000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:78180000-78215600	Weak transcription	Right Atrium	heart
8	chr15:78180600-78185600	Weak transcription	Left Ventricle	heart
9	chr15:78180600-78188000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:78181400-78185200	Enhancers	Fetal Stomach	stomach
11	chr15:78182000-78184600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:78182000-78185800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:78182000-78186000	Weak transcription	Fetal Heart	heart
14	chr15:78182000-78192800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:78182600-78184400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:78182800-78184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:78182800-78184800	Enhancers	Placenta	Placenta
18	chr15:78182800-78185000	Enhancers	NHDF-Ad	bronchial
19	chr15:78183000-78184800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:78183000-78185000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:78183200-78184600	Enhancers	Primary B cells from peripheral blood	blood
22	chr15:78183200-78184600	Enhancers	Fetal Brain Male	brain
23	chr15:78183400-78184400	Enhancers	Right Ventricle	heart
24	chr15:78183400-78184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:78183400-78184800	Enhancers	Spleen	Spleen
26	chr15:78183400-78185000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr15:78183600-78184800	Enhancers	Adipose Nuclei	Adipose
28	chr15:78183800-78184600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr15:78183800-78185000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:78184000-78184400	Enhancers	Primary B cells from cord blood	blood
31	chr15:78184000-78184400	Enhancers	GM12878-XiMat	blood
32	chr15:78184000-78184800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr15:78184000-78185000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:78184000-78185000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:78184000-78185800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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