Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:122315800-122315950	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr7:122315742-122316044	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr7:122315701-122316066	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:122315823-122315926	GM19238	blood:	n/a	n/a
5	CTCF	chr7:122315796-122315950	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr7:122315660-122316066	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:122315800-122315950	GM12874	blood:	n/a	n/a
8	RAD21	chr7:122315711-122316114	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:122315800-122315950	GM06990	blood:	n/a	n/a
10	RAD21	chr7:122315713-122315971	SK-N-SH_RA	brain:	n/a	n/a
11	RAD21	chr7:122315744-122315929	HepG2	liver:	n/a	n/a
12	CTCF	chr7:122315758-122315894	HepG2	liver:	n/a	n/a
13	CTCF	chr7:122315832-122315852	Medullo	brain:	n/a	n/a
14	CTCF	chr7:122315740-122315890	GM12870	blood:	n/a	n/a
15	CTCF	chr7:122315760-122315910	GM12872	blood:	n/a	n/a
16	CTCF	chr7:122315760-122315910	NB4	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225795	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12530951	0.90[EUR][1000 genomes]
rs12532793	0.89[EUR][1000 genomes]
rs12533063	0.83[EUR][1000 genomes]
rs12538550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1476898	0.83[EUR][1000 genomes]
rs1860857	0.83[EUR][1000 genomes]
rs1968146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1968147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2430028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2430029	0.97[ASN][1000 genomes]
rs2430048	0.89[EUR][1000 genomes]
rs2471182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2471194	0.89[EUR][1000 genomes]
rs2471202	0.83[EUR][1000 genomes]
rs2471206	0.83[EUR][1000 genomes]
rs4727944	0.89[EUR][1000 genomes]
rs73220284	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73220288	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7793961	0.83[EUR][1000 genomes]
rs7794897	0.91[EUR][1000 genomes]
rs7797968	0.89[EUR][1000 genomes]
rs986999	0.90[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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription 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	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122293600-122318600	Weak transcription	Lung	lung
2	chr7:122308200-122316600	Weak transcription	Left Ventricle	heart
3	chr7:122311400-122316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:122311800-122316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:122312000-122316600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:122312000-122316800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:122312000-122317000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:122312800-122316800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:122313000-122316600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:122314200-122318200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:122314400-122316600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:122314400-122316600	Weak transcription	Ovary	ovary
13	chr7:122314400-122317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:122314800-122322800	Weak transcription	Right Atrium	heart
15	chr7:122315000-122316400	Weak transcription	Stomach Mucosa	stomach
16	chr7:122315000-122318200	Enhancers	Pancreas	Pancrea
17	chr7:122315000-122318400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:122315200-122316200	Enhancers	Gastric	stomach
19	chr7:122315400-122316800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:122315400-122317200	Weak transcription	Fetal Stomach	stomach
21	chr7:122315400-122322200	Weak transcription	Fetal Lung	lung

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