Variant report

Variant	rs2029520
Chromosome Location	chr15:75415768-75415769
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	MAFK	chr15:75415764-75416092	H1-hESC	embryonic stem cell:	n/a	chr15:75415899-75415914
2	FOS	chr15:75415765-75416072	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr15:75415743-75416216	Hela-S3	cervix:	n/a	chr15:75415899-75415914
4	MAFK	chr15:75415726-75416117	K562	blood:	n/a	chr15:75415899-75415914
5	POLR2A	chr15:75415653-75416304	SK-N-MC	brain:	n/a	n/a
6	MAFF	chr15:75415740-75416090	HepG2	liver:	n/a	chr15:75415897-75415915
7	MAFK	chr15:75415721-75416130	IMR90	lung:	n/a	chr15:75415899-75415914
8	FOSL2	chr15:75415632-75416335	A549	lung:	n/a	n/a
9	GATA3	chr15:75415703-75416412	A549	lung:	n/a	n/a
10	BACH1	chr15:75415758-75416231	K562	blood:	n/a	n/a
11	IRF1	chr15:75415753-75416158	K562	blood:	n/a	n/a
12	FOXP2	chr15:75415689-75416089	SK-N-MC	brain:	n/a	n/a
13	REST	chr15:75415731-75416465	A549	lung:	n/a	n/a
14	MAFK	chr15:75415728-75416095	HepG2	liver:	n/a	chr15:75415899-75415914
15	MAFK	chr15:75415727-75416086	HepG2	liver:	n/a	chr15:75415899-75415914
16	MAFF	chr15:75415722-75416302	K562	blood:	n/a	chr15:75415897-75415915
17	TCF12	chr15:75415623-75416469	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000252722	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1021382	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10775208	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851877	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10851878	0.91[ASN][1000 genomes]
rs11072525	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072526	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072528	0.96[ASN][1000 genomes]
rs11638746	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12102035	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442392	0.96[ASN][1000 genomes]
rs12442410	0.96[ASN][1000 genomes]
rs12910348	0.94[ASN][1000 genomes]
rs12914536	0.96[ASN][1000 genomes]
rs12917185	0.96[ASN][1000 genomes]
rs12917304	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1602360	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806793	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806794	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1867147	0.82[EUR][1000 genomes]
rs2029519	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415158	0.91[ASN][1000 genomes]
rs2415159	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28767543	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34511319	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243032	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4334268	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4421941	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4479194	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4480765	0.94[ASN][1000 genomes]
rs4519311	0.80[ASN][1000 genomes]
rs4886420	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886422	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886658	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886661	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886667	0.96[ASN][1000 genomes]
rs4886668	0.94[ASN][1000 genomes]
rs4886669	0.94[ASN][1000 genomes]
rs55662404	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58201389	0.92[ASN][1000 genomes]
rs59390721	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495153	0.96[ASN][1000 genomes]
rs6495154	0.96[ASN][1000 genomes]
rs6495155	0.96[ASN][1000 genomes]
rs6495158	0.94[ASN][1000 genomes]
rs7162055	0.92[ASN][1000 genomes]
rs7162376	0.91[ASN][1000 genomes]
rs7163083	0.96[ASN][1000 genomes]
rs7166695	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168020	0.89[ASN][1000 genomes]
rs7169545	0.96[ASN][1000 genomes]
rs7169867	0.96[ASN][1000 genomes]
rs7172205	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7172677	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7177528	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178005	0.96[ASN][1000 genomes]
rs7178625	0.96[ASN][1000 genomes]
rs7178784	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179426	0.96[ASN][1000 genomes]
rs7179436	0.89[EUR][1000 genomes]
rs7181933	0.96[ASN][1000 genomes]
rs72730601	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8025412	0.96[ASN][1000 genomes]
rs8026273	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8027552	0.82[ASN][1000 genomes]
rs8027604	0.94[ASN][1000 genomes]
rs8028146	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8029756	0.95[ASN][1000 genomes]
rs8029760	0.96[ASN][1000 genomes]
rs8032208	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033754	0.96[ASN][1000 genomes]
rs8035588	0.87[ASN][1000 genomes]
rs8035789	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs902476	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75397600-75415800	Weak transcription	Ovary	ovary
2	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:75410800-75415800	Enhancers	Hela-S3	cervix
4	chr15:75412800-75433600	Weak transcription	Aorta	Aorta
5	chr15:75413200-75416600	Weak transcription	Placenta	Placenta
6	chr15:75413600-75416600	Weak transcription	Lung	lung
7	chr15:75414400-75415800	Weak transcription	HepG2	liver
8	chr15:75414800-75415800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:75414800-75415800	Weak transcription	A549	lung
10	chr15:75414800-75419200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:75415000-75425400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:75415200-75416800	Enhancers	NHDF-Ad	bronchial
13	chr15:75415400-75423000	Enhancers	Primary hematopoietic stem cells	blood
14	chr15:75415600-75415800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:75415600-75415800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr15:75415600-75416600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:75415600-75416600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr15:75415600-75419800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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