Variant report

Variant	rs57947969
Chromosome Location	chr15:56703730-56703731
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	MAFK	chr15:56703334-56703819	K562	blood:	n/a	chr15:56703460-56703475
2	MAFK	chr15:56703345-56703799	HepG2	liver:	n/a	chr15:56703460-56703475
3	MAFF	chr15:56703393-56703840	K562	blood:	n/a	n/a
4	IKZF1	chr15:56703668-56703893	GM12878	blood:	n/a	n/a
5	MAFF	chr15:56703370-56703803	HepG2	liver:	n/a	n/a
6	MAFK	chr15:56703327-56703794	IMR90	lung:	n/a	chr15:56703460-56703475

Variant related genes	Relation type
ENSG00000261823	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10152826	0.85[EUR][1000 genomes]
rs10438327	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1072358	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852414	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11853962	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11854726	0.80[EUR][1000 genomes]
rs11855937	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11856170	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11856691	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11857306	0.86[EUR][1000 genomes]
rs11857374	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11858489	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12324006	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12708449	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12898789	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12901182	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12902594	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907445	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908839	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12910210	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12910212	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1402171	0.88[EUR][1000 genomes]
rs1426069	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1426070	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1477588	0.87[EUR][1000 genomes]
rs1520532	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17238691	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17819444	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863425	0.87[EUR][1000 genomes]
rs1991266	0.87[EUR][1000 genomes]
rs2098897	0.87[EUR][1000 genomes]
rs2114185	0.87[EUR][1000 genomes]
rs2460649	0.80[EUR][1000 genomes]
rs2465968	0.87[EUR][1000 genomes]
rs2465969	0.82[EUR][1000 genomes]
rs2554284	0.88[EUR][1000 genomes]
rs2554287	0.87[EUR][1000 genomes]
rs2554288	0.87[EUR][1000 genomes]
rs2682013	0.87[EUR][1000 genomes]
rs2682015	0.82[EUR][1000 genomes]
rs2682016	0.86[EUR][1000 genomes]
rs2682024	0.87[EUR][1000 genomes]
rs2682025	0.87[EUR][1000 genomes]
rs2682026	0.87[EUR][1000 genomes]
rs2682027	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2682055	0.84[EUR][1000 genomes]
rs2713919	0.87[EUR][1000 genomes]
rs2713921	0.87[EUR][1000 genomes]
rs2713922	0.81[EUR][1000 genomes]
rs2713940	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2718904	0.87[EUR][1000 genomes]
rs2718905	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2718921	0.88[EUR][1000 genomes]
rs2718922	0.88[EUR][1000 genomes]
rs2718923	0.87[EUR][1000 genomes]
rs2718924	0.81[EUR][1000 genomes]
rs2718947	0.87[EUR][1000 genomes]
rs2725850	0.88[EUR][1000 genomes]
rs2725851	0.88[EUR][1000 genomes]
rs2725852	0.88[EUR][1000 genomes]
rs2725853	0.88[EUR][1000 genomes]
rs2725855	0.86[EUR][1000 genomes]
rs2725856	0.87[EUR][1000 genomes]
rs2725857	0.87[EUR][1000 genomes]
rs2725861	0.87[EUR][1000 genomes]
rs28621861	0.83[EUR][1000 genomes]
rs28622888	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28866008	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34544252	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34597546	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34684027	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35131119	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35155290	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35187662	0.84[EUR][1000 genomes]
rs35361016	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35470681	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35570374	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35895864	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35968448	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36082281	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784551	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774238	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4774239	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4774852	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4774854	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774855	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4774857	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4774860	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56319062	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60328780	0.80[ASN][1000 genomes]
rs60648061	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61010710	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61288444	0.82[ASN][1000 genomes]
rs62022130	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62023869	0.84[EUR][1000 genomes]
rs62047375	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62047376	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62047377	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493844	0.90[EUR][1000 genomes]
rs67347418	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67639563	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs724100	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs767142	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8032826	0.90[EUR][1000 genomes]
rs8041422	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1545	chr15:56659498-56897381	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1046891	chr15:56659587-56792033	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv471330	chr15:56659709-56896385	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471506	chr15:56659709-56896385	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904246	chr15:56665827-56732192	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv498847	chr15:56667038-56896395	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2525559	chr15:56669294-56897412	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv433294	chr15:56676457-56853535	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3693203	chr15:56676457-56894478	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv35150	chr15:56677730-56896304	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv510662	chr15:56686353-56735547	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv9270	chr15:56686946-56760420	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1811649	chr15:56702355-56714618	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56665200-56733400	Weak transcription	Fetal Kidney	kidney
2	chr15:56677600-56709600	Weak transcription	Fetal Lung	lung
3	chr15:56677800-56726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:56686000-56734600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:56690000-56717400	Weak transcription	Dnd41	blood
6	chr15:56690000-56737800	Weak transcription	Stomach Mucosa	stomach
7	chr15:56699000-56706000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:56699200-56717800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:56701400-56705200	Weak transcription	Small Intestine	intestine
10	chr15:56701800-56706800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:56702000-56704000	Enhancers	GM12878-XiMat	blood
12	chr15:56702800-56703800	Enhancers	Fetal Brain Male	brain
13	chr15:56703400-56703800	Enhancers	Fetal Stomach	stomach
14	chr15:56703600-56704000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:56703600-56718000	Weak transcription	Fetal Intestine Large	intestine
16	chr15:56703600-56730800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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