Variant report

Variant	rs59570234
Chromosome Location	chr7:12634938-12634939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:12634859-12635092	K562	blood:	n/a	n/a
2	MAZ	chr7:12634904-12635085	K562	blood:	n/a	n/a
3	ESR1	chr7:12634743-12635231	T-47D	breast:	n/a	n/a
4	NR2F2	chr7:12634801-12635110	K562	blood:	n/a	n/a
5	TAL1	chr7:12634867-12635105	K562	blood:	n/a	n/a
6	JUND	chr7:12634901-12635215	K562	blood:	n/a	n/a
7	ESR1	chr7:12634865-12635094	T-47D	breast:	n/a	n/a
8	RCOR1	chr7:12634774-12635107	K562	blood:	n/a	n/a
9	EP300	chr7:12634827-12635144	T-47D	breast:	n/a	n/a
10	ESR1	chr7:12634776-12635193	T-47D	breast:	n/a	n/a
11	TEAD4	chr7:12634798-12635277	K562	blood:	n/a	n/a
12	BHLHE40	chr7:12634844-12635148	K562	blood:	n/a	n/a
13	CTCF	chr7:12634820-12634970	HepG2	liver:	n/a	n/a
14	GATA3	chr7:12634735-12635218	T-47D	breast:	n/a	chr7:12635038-12635046
15	GATA3	chr7:12634869-12635089	MCF-7	breast:	n/a	chr7:12635038-12635046
16	MYC	chr7:12634744-12635120	K562	blood:	n/a	n/a
17	EP300	chr7:12634853-12635135	K562	blood:	n/a	n/a
18	GATA3	chr7:12634743-12635204	MCF-7	breast:	n/a	chr7:12635038-12635046
19	MAX	chr7:12634835-12635132	K562	blood:	n/a	n/a
20	ESR1	chr7:12634755-12635233	T-47D	breast:	n/a	n/a
21	ESR1	chr7:12634718-12635207	T-47D	breast:	n/a	n/a
22	TEAD4	chr7:12634798-12635244	K562	blood:	n/a	n/a
23	MAX	chr7:12634900-12635151	K562	blood:	n/a	n/a
24	GATA2	chr7:12634846-12635195	K562	blood:	n/a	n/a
25	POLR2A	chr7:12634869-12635098	K562	blood:	n/a	n/a
26	ESR1	chr7:12634678-12635215	T-47D	breast:	n/a	n/a
27	MAX	chr7:12634908-12635058	K562	blood:	n/a	n/a
28	POLR2A	chr7:12634852-12634975	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12628422..12631395-chr7:12632472..12635866,3	K562	blood:

No data

Variant related genes	Relation type
SCIN	TF binding region
ENSG00000006747	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11975856	0.81[ASN][1000 genomes]
rs17166169	0.81[ASN][1000 genomes]
rs17166188	0.81[ASN][1000 genomes]
rs3087643	0.81[ASN][1000 genomes]
rs57496423	1.00[AMR][1000 genomes]
rs60516001	1.00[AMR][1000 genomes]
rs6946787	0.81[ASN][1000 genomes]
rs73680866	0.81[ASN][1000 genomes]
rs7781602	0.81[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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1020242	chr7:12605593-12641202	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3493690	chr7:12628257-12634980	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3493691	chr7:12628257-12634980	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv527833	chr7:12632085-12644502	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:12611800-12637600	Weak transcription	Colonic Mucosa	Colon
2	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:12626200-12637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:12628000-12635600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:12633400-12635000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:12633400-12635000	ZNF genes & repeats	Placenta	Placenta
9	chr7:12634800-12635000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:12634800-12635600	Enhancers	K562	blood

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