Variant report

Variant	rs73293093
Chromosome Location	chr7:12628369-12628370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr7:12627850-12628701	K562	blood:	n/a	n/a
2	STAT5A	chr7:12628070-12628568	K562	blood:	n/a	n/a
3	TBL1XR1	chr7:12627950-12628416	K562	blood:	n/a	n/a
4	TAL1	chr7:12628006-12628677	K562	blood:	n/a	n/a
5	TRIM28	chr7:12628110-12628571	K562	blood:	n/a	n/a
6	CEBPD	chr7:12628238-12628465	K562	blood:	n/a	n/a
7	MAX	chr7:12628084-12628407	K562	blood:	n/a	n/a
8	MYC	chr7:12628231-12628378	K562	blood:	n/a	n/a
9	CEBPB	chr7:12628122-12628421	K562	blood:	n/a	n/a
10	ESR1	chr7:12628218-12628455	T-47D	breast:	n/a	n/a
11	EP300	chr7:12627932-12628436	K562	blood:	n/a	n/a
12	BHLHE40	chr7:12627895-12628444	K562	blood:	n/a	n/a
13	MYC	chr7:12628294-12628436	K562	blood:	n/a	n/a
14	NR2F2	chr7:12627931-12628433	K562	blood:	n/a	n/a
15	GATA2	chr7:12628167-12628466	K562	blood:	n/a	n/a
16	TEAD4	chr7:12628078-12628818	K562	blood:	n/a	n/a
17	ESR1	chr7:12628159-12628476	T-47D	breast:	n/a	n/a
18	MAZ	chr7:12628231-12628648	K562	blood:	n/a	n/a
19	NR2F2	chr7:12628082-12628518	K562	blood:	n/a	n/a
20	RCOR1	chr7:12627857-12628434	K562	blood:	n/a	n/a
21	EGR1	chr7:12628217-12628610	K562	blood:	n/a	n/a
22	CBX3	chr7:12627894-12628692	K562	blood:	n/a	n/a
23	POLR2A	chr7:12628176-12628417	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	chr7:12620852..12624352-chr7:12625661..12628427,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWDE-2	chr7:12628112-12628690	ENSG00000248523

No data

Variant related genes	Relation type
SCIN	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10233337	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10248988	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10255606	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10276226	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1129315	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17283514	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17283696	0.81[ASN][1000 genomes]
rs1859989	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1859990	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1990223	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1990224	0.83[ASN][1000 genomes]
rs1990225	0.83[ASN][1000 genomes]
rs2215063	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2240571	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240575	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3173628	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735221	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3807863	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4361677	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460967	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6460968	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954578	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6972477	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7801351	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs968792	0.86[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	nsv1018053	chr7:12580554-12632996	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12611800-12637600	Weak transcription	Colonic Mucosa	Colon
2	chr7:12619800-12630400	Weak transcription	Esophagus	oesophagus
3	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:12625600-12633400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:12626000-12628600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:12626200-12637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:12627400-12633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:12627800-12628400	Flanking Active TSS	K562	blood
11	chr7:12628000-12629400	Enhancers	Placenta	Placenta
12	chr7:12628000-12635600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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