Variant report

Variant	rs11674251
Chromosome Location	chr2:20216509-20216510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:20216112-20216573	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr2:20216134-20216552	MCF-7	breast:	n/a	n/a
3	ZEB1	chr2:20216031-20216614	HepG2	liver:	n/a	n/a
4	CTCF	chr2:20216102-20216509	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:20216380-20216530	RPTEC	kidney:	n/a	n/a
6	CTCF	chr2:20216171-20216524	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr2:20216180-20216511	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZEB1	chr2:20216057-20216611	HepG2	liver:	n/a	n/a
9	CTCF	chr2:20216380-20216530	GM12869	blood:	n/a	n/a
10	CTCF	chr2:20216460-20216610	WERI-Rb-1	eye:	n/a	n/a
11	RAD21	chr2:20215028-20216769	SK-N-SH	brain:	n/a	chr2:20215430-20215449
12	MYC	chr2:20216499-20216520	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 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	chr2:20205089..20207938-chr2:20214962..20217155,2	MCF-7	breast:
5	chr2:20215704..20218308-chr2:20221875..20224870,4	MCF-7	breast:
6	chr2:20214925..20217152-chr2:20292879..20295056,3	MCF-7	breast:
7	chr2:20214859..20216804-chr2:20293145..20294071,9	MCF-7	breast:
8	chr2:20214302..20217183-chr2:20301641..20303761,2	MCF-7	breast:
9	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
10	chr2:20214721..20216712-chr2:20262631..20264995,2	K562	blood:

No data

Variant related genes	Relation type
MATN3	TF binding region
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1016316	0.87[CEU][hapmap];0.87[CHD][hapmap]
rs11679737	0.86[ASW][hapmap];1.00[LWK][hapmap]
rs11689431	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]
rs11694170	1.00[ASW][hapmap];0.87[CEU][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap]
rs1191812	0.80[CHD][hapmap]
rs12988954	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473887	0.83[AFR][1000 genomes]
rs1513830	1.00[ASW][hapmap];0.87[CEU][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];1.00[MKK][hapmap];0.85[ASN][1000 genomes]
rs1513831	1.00[ASW][hapmap];0.87[CEU][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap]
rs16987338	0.94[CEU][hapmap];0.92[JPT][hapmap]
rs2244939	0.80[CHD][hapmap]
rs34539547	0.87[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3731661	1.00[LWK][hapmap]
rs3731673	1.00[ASW][hapmap];0.87[CEU][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.89[MKK][hapmap];0.85[ASN][1000 genomes]
rs3769759	0.83[ASN][1000 genomes]
rs3769760	0.87[CEU][hapmap];0.94[CHD][hapmap];0.83[ASN][1000 genomes]
rs3769762	0.87[CEU][hapmap];0.83[ASN][1000 genomes]
rs62109427	0.93[ASN][1000 genomes]
rs62109431	0.93[ASN][1000 genomes]
rs6706375	0.87[CEU][hapmap];0.83[ASN][1000 genomes]
rs6709349	0.86[ASW][hapmap];1.00[LWK][hapmap]
rs6734005	1.00[LWK][hapmap]
rs7570360	0.94[ASN][1000 genomes]
rs878983	0.86[ASW][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11674251	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	chr2:20216200-20216600	Enhancers	HMEC	breast
16	chr2:20216200-20216800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:20216400-20227800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:20216400-20228800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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