Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr1:223720942-223721314	GM12878	blood:	n/a	n/a
2	NFATC1	chr1:223720920-223721233	GM12878	blood:	n/a	n/a
3	ATF2	chr1:223720936-223721318	GM12878	blood:	n/a	n/a
4	NFIC	chr1:223720730-223721476	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:223720800-223721279	GM12878	blood:	n/a	n/a
6	ZNF143	chr1:223720952-223721236	GM12878	blood:	n/a	n/a
7	RELA	chr1:223720899-223721306	GM12878	blood:	n/a	n/a
8	BATF	chr1:223720933-223721309	GM12878	blood:	n/a	n/a
9	EBF1	chr1:223720921-223721346	GM12878	blood:	n/a	n/a
10	CUX1	chr1:223720966-223721363	GM12878	blood:	n/a	n/a
11	FOXM1	chr1:223720818-223721369	GM12878	blood:	n/a	n/a
12	ZNF384	chr1:223720888-223721088	GM12878	blood:	n/a	n/a
13	EBF1	chr1:223720804-223721473	GM12878	blood:	n/a	n/a
14	TBP	chr1:223720846-223721314	GM12878	blood:	n/a	n/a
15	STAT3	chr1:223720950-223721247	GM12878	blood:	n/a	chr1:223721071-223721082
16	RUNX3	chr1:223720707-223721455	GM12878	blood:	n/a	n/a
17	EP300	chr1:223720923-223721277	GM12878	blood:	n/a	n/a
18	EBF1	chr1:223720915-223721307	GM12878	blood:	n/a	n/a
19	EP300	chr1:223720897-223721474	GM12878	blood:	n/a	chr1:223721341-223721354
20	BCL3	chr1:223720885-223721302	GM12878	blood:	n/a	n/a
21	IRF4	chr1:223720907-223721273	GM12878	blood:	n/a	n/a
22	IKZF1	chr1:223720800-223721290	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CAPN8	TF binding region

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

rs_ID	r²[population]
rs34126830	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34157106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34158997	0.80[EUR][1000 genomes]
rs34244999	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34267716	0.80[EUR][1000 genomes]
rs34693465	0.84[EUR][1000 genomes]
rs34893034	0.86[EUR][1000 genomes]
rs34900680	0.85[EUR][1000 genomes]
rs34944273	0.82[EUR][1000 genomes]
rs35164209	0.86[EUR][1000 genomes]
rs35557925	0.82[EUR][1000 genomes]
rs35808016	0.98[EUR][1000 genomes]
rs35916490	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36011221	0.81[EUR][1000 genomes]
rs4072246	0.90[EUR][1000 genomes]
rs61823523	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61823525	0.80[EUR][1000 genomes]
rs61823552	0.80[EUR][1000 genomes]
rs61825160	0.83[AMR][1000 genomes]
rs67213726	0.81[EUR][1000 genomes]
rs67990281	0.84[EUR][1000 genomes]
rs68037872	0.81[EUR][1000 genomes]
rs68046706	0.82[EUR][1000 genomes]
rs71524966	0.83[EUR][1000 genomes]
rs72747939	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223710800-223723400	Weak transcription	Colonic Mucosa	Colon
2	chr1:223714400-223728200	Weak transcription	Fetal Stomach	stomach
3	chr1:223718600-223727000	Weak transcription	Gastric	stomach
4	chr1:223718800-223723400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:223719200-223723400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:223720400-223723400	Weak transcription	Stomach Mucosa	stomach

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