Variant report

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:20216133-20216490	MCF-7	breast:	n/a	n/a
2	RAD21	chr2:20216112-20216573	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:20216178-20216413	HepG2	liver:	n/a	n/a
4	CTCF	chr2:20216100-20216250	GM12878	blood:	n/a	n/a
5	RAD21	chr2:20216134-20216552	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:20216120-20216270	HCT-116	colon:	n/a	n/a
7	CTCF	chr2:20216200-20216350	HepG2	liver:	n/a	n/a
8	RAD21	chr2:20216157-20216505	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZEB1	chr2:20216031-20216614	HepG2	liver:	n/a	n/a
10	CTCF	chr2:20216180-20216330	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr2:20216102-20216509	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:20216180-20216330	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:20216160-20216310	A549	lung:	n/a	n/a
14	CTCF	chr2:20216140-20216290	GM12871	blood:	n/a	n/a
15	CTCF	chr2:20216100-20216250	GM12867	blood:	n/a	n/a
16	CTCF	chr2:20216200-20216350	A549	lung:	n/a	n/a
17	CTCF	chr2:20216171-20216524	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr2:20216180-20216511	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZEB1	chr2:20216057-20216611	HepG2	liver:	n/a	n/a
20	CTCF	chr2:20216160-20216310	RPTEC	kidney:	n/a	n/a
21	RAD21	chr2:20215028-20216769	SK-N-SH	brain:	n/a	chr2:20215430-20215449
22	HNF4A	chr2:20216095-20216449	HepG2	liver:	n/a	n/a
23	CTCF	chr2:20216160-20216310	Hela-S3	cervix:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20214554..20219540-chr2:20268505..20271599,4	MCF-7	breast:
2	chr2:20155282..20156235-chr2:20215355..20216756,5	MCF-7	breast:
3	chr2:20215693..20217676-chr2:20220990..20223704,2	MCF-7	breast:
4	chr2:20212101..20214249-chr2:20214270..20216382,2	K562	blood:
5	chr2:20205089..20207938-chr2:20214962..20217155,2	MCF-7	breast:
6	chr2:20215704..20218308-chr2:20221875..20224870,4	MCF-7	breast:
7	chr2:20214925..20217152-chr2:20292879..20295056,3	MCF-7	breast:
8	chr2:20214859..20216804-chr2:20293145..20294071,9	MCF-7	breast:
9	chr2:20214302..20217183-chr2:20301641..20303761,2	MCF-7	breast:
10	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
11	chr2:20214721..20216712-chr2:20262631..20264995,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1016316	0.82[CEU][hapmap]
rs11674251	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11679737	0.86[ASW][hapmap]
rs11694170	1.00[ASW][hapmap];0.82[CEU][hapmap];0.84[JPT][hapmap]
rs12988954	0.88[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1513830	1.00[ASW][hapmap];0.82[CEU][hapmap];0.84[JPT][hapmap]
rs1513831	1.00[ASW][hapmap];0.82[CEU][hapmap];0.84[JPT][hapmap]
rs16987338	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs34539547	0.82[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs3731673	1.00[ASW][hapmap];0.82[CEU][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs3769760	0.82[CEU][hapmap];0.84[CHD][hapmap]
rs3769762	0.82[CEU][hapmap]
rs62109427	0.98[ASN][1000 genomes]
rs62109431	0.88[ASN][1000 genomes]
rs6706375	0.82[CEU][hapmap]
rs6709349	0.86[ASW][hapmap]
rs7570360	0.89[ASN][1000 genomes]
rs878983	0.86[ASW][hapmap]

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	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11689431	MYCN	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20213000-20218400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:20213000-20220600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:20213000-20227200	Weak transcription	Ovary	ovary
4	chr2:20213200-20217000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20213200-20218400	Weak transcription	Fetal Heart	heart
6	chr2:20213200-20225000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:20213200-20227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:20213200-20227000	Weak transcription	Aorta	Aorta
9	chr2:20213400-20227400	Weak transcription	Fetal Kidney	kidney
10	chr2:20213400-20232200	Weak transcription	Right Ventricle	heart
11	chr2:20213600-20216600	Enhancers	HepG2	liver
12	chr2:20213600-20227000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:20214800-20220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:20215600-20216800	Enhancers	NHEK	skin
15	chr2:20216200-20216400	Enhancers	Fetal Intestine Large	intestine
16	chr2:20216200-20216400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:20216200-20216600	Enhancers	HMEC	breast
18	chr2:20216200-20216800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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