Variant report

Variant	rs4886537
Chromosome Location	chr15:78191288-78191289
allele	G/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	MAFK	chr15:78191201-78191427	HepG2	liver:	n/a	chr15:78191305-78191314 chr15:78191300-78191315
2	TCF3	chr15:78191043-78191537	GM12878	blood:	n/a	chr15:78191476-78191490
3	BCL3	chr15:78191134-78191391	GM12878	blood:	n/a	n/a
4	MAX	chr15:78191133-78191394	K562	blood:	n/a	n/a
5	MAFF	chr15:78191200-78191403	HepG2	liver:	n/a	chr15:78191298-78191316
6	MAFF	chr15:78191252-78191450	K562	blood:	n/a	chr15:78191298-78191316
7	BACH1	chr15:78191284-78191344	K562	blood:	n/a	n/a
8	PBX3	chr15:78191206-78191402	GM12878	blood:	n/a	n/a
9	MAFK	chr15:78191229-78191389	IMR90	lung:	n/a	chr15:78191305-78191314 chr15:78191300-78191315
10	MYC	chr15:78191267-78191294	K562	blood:	n/a	n/a
11	BCL3	chr15:78191128-78191516	GM12878	blood:	n/a	n/a
12	TCF3	chr15:78191193-78191370	GM12878	blood:	n/a	n/a
13	JUND	chr15:78191161-78191346	K562	blood:	n/a	chr15:78191305-78191317 chr15:78191306-78191316 chr15:78191308-78191319
14	MAX	chr15:78191099-78191435	K562	blood:	n/a	n/a
15	MAFK	chr15:78191158-78191452	HepG2	liver:	n/a	chr15:78191305-78191314 chr15:78191300-78191315
16	MAFK	chr15:78191150-78191476	K562	blood:	n/a	chr15:78191305-78191314 chr15:78191300-78191315

Variant related genes	Relation type
CSPG4P13	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11072692	0.85[AMR][1000 genomes]
rs11072693	0.83[AMR][1000 genomes]
rs11072697	0.83[AMR][1000 genomes]
rs11072698	0.83[AMR][1000 genomes]
rs11072699	0.85[AMR][1000 genomes]
rs11072700	0.85[AMR][1000 genomes]
rs1108478	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1109887	0.87[ASN][1000 genomes]
rs1109888	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11630652	0.85[AMR][1000 genomes]
rs11638419	0.85[AMR][1000 genomes]
rs11638589	0.84[AMR][1000 genomes]
rs11858386	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12904447	0.91[AMR][1000 genomes]
rs12907928	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12908305	0.85[AMR][1000 genomes]
rs12908616	0.82[AMR][1000 genomes]
rs12909806	0.93[ASN][1000 genomes]
rs12910046	0.93[ASN][1000 genomes]
rs12911075	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12912453	0.85[AMR][1000 genomes]
rs12913449	0.85[AMR][1000 genomes]
rs12913714	0.80[AMR][1000 genomes]
rs12914978	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12915969	0.86[ASN][1000 genomes]
rs12916128	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12916759	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12917382	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1574491	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1806454	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28369222	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28523913	0.87[ASN][1000 genomes]
rs34811851	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3902785	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4243065	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4243067	0.84[AMR][1000 genomes]
rs4243068	0.88[AMR][1000 genomes]
rs4300615	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4325520	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4366682	0.80[AMR][1000 genomes]
rs4493014	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4513058	0.86[ASN][1000 genomes]
rs4575494	0.88[ASN][1000 genomes]
rs4886538	0.83[AMR][1000 genomes]
rs4886539	0.82[AMR][1000 genomes]
rs4886540	0.82[AMR][1000 genomes]
rs4886542	0.83[AMR][1000 genomes]
rs4886543	0.81[AMR][1000 genomes]
rs4886966	0.86[AMR][1000 genomes]
rs57630695	0.84[AMR][1000 genomes]
rs57708464	0.84[AMR][1000 genomes]
rs58331113	0.85[AMR][1000 genomes]
rs59711627	0.85[AMR][1000 genomes]
rs60003906	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6495263	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6495264	0.87[ASN][1000 genomes]
rs67269215	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67793790	0.85[AMR][1000 genomes]
rs71398989	0.84[AMR][1000 genomes]
rs7169893	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7170652	0.87[ASN][1000 genomes]
rs73456876	0.83[AMR][1000 genomes]
rs7403009	0.86[ASN][1000 genomes]
rs8024681	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8024765	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8025691	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8030318	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8030492	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8036225	0.82[ASN][1000 genomes]
rs8036976	0.85[ASN][1000 genomes]
rs8039040	0.87[ASN][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78180000-78215600	Weak transcription	Right Atrium	heart
2	chr15:78182000-78192800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:78187600-78192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78188400-78200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:78188600-78192600	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:78190200-78195400	Weak transcription	Spleen	Spleen
7	chr15:78190600-78191800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:78191000-78191600	Bivalent Enhancer	K562	blood
9	chr15:78191200-78191400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:78191200-78191400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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