Variant report

Variant	rs12917594
Chromosome Location	chr15:83740117-83740118
allele	C/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	CTCF	chr15:83740020-83740170	HCFaa	heart:	n/a	n/a
2	CTCF	chr15:83740000-83740150	HepG2	liver:	n/a	n/a
3	CTCF	chr15:83740020-83740170	GM12866	blood:	n/a	n/a
4	CTCF	chr15:83739980-83740130	HAc	cerebellar:	n/a	n/a
5	CTCF	chr15:83740020-83740170	GM12873	blood:	n/a	n/a
6	CTCF	chr15:83739980-83740130	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83734506..83738383-chr15:83739327..83743772,4	K562	blood:
2	chr15:83739821..83742746-chr15:83743126..83746658,4	MCF-7	breast:
3	chr15:83739861..83742001-chr15:83749630..83751735,2	K562	blood:

Variant related genes	Relation type
BTBD1	TF binding region
ENSG00000263643	Chromatin interaction
ENSG00000064726	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10400812	0.94[ASN][1000 genomes]
rs11858074	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591237	0.81[ASN][1000 genomes]
rs12592391	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12593316	0.88[ASN][1000 genomes]
rs12899522	0.89[ASN][1000 genomes]
rs12900411	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12901811	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902721	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12903066	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12904695	0.94[ASN][1000 genomes]
rs12906027	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12906626	0.94[ASN][1000 genomes]
rs12907032	0.94[ASN][1000 genomes]
rs12911706	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911891	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12913130	0.94[ASN][1000 genomes]
rs13329195	0.94[ASN][1000 genomes]
rs13329269	0.89[ASN][1000 genomes]
rs17158127	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17507300	0.95[ASN][1000 genomes]
rs2084839	0.85[ASN][1000 genomes]
rs2381030	0.95[ASN][1000 genomes]
rs28485801	0.94[ASN][1000 genomes]
rs28538218	0.80[ASN][1000 genomes]
rs28580677	0.97[ASN][1000 genomes]
rs3087804	0.94[ASN][1000 genomes]
rs34869943	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35207081	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35627116	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36038412	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4079029	0.97[ASN][1000 genomes]
rs58329615	0.82[ASN][1000 genomes]
rs6603044	0.94[ASN][1000 genomes]
rs6603046	0.95[ASN][1000 genomes]
rs66603627	0.81[ASN][1000 genomes]
rs66606849	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66982382	0.81[ASN][1000 genomes]
rs67482297	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67822554	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7163516	0.90[ASN][1000 genomes]
rs7166645	0.95[ASN][1000 genomes]
rs7170547	0.95[ASN][1000 genomes]
rs7177599	0.94[ASN][1000 genomes]
rs7181169	0.94[ASN][1000 genomes]
rs750214	0.95[ASN][1000 genomes]
rs7757	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8031896	0.95[ASN][1000 genomes]
rs8040457	0.95[ASN][1000 genomes]
rs8040998	0.94[ASN][1000 genomes]
rs9646239	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83739800-83740400	Enhancers	Fetal Muscle Leg	muscle

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