Variant report

Variant	rs11568972
Chromosome Location	chr4:110889007-110889008
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:110888864-110889627	MCF-7	breast:	n/a	n/a
2	FOSL1	chr4:110888870-110889324	HCT-116	colon:	n/a	n/a
3	FOSL2	chr4:110888844-110889474	MCF-7	breast:	n/a	n/a
4	HDAC2	chr4:110888900-110889361	MCF-7	breast:	n/a	n/a
5	ZNF217	chr4:110888983-110889569	MCF-7	breast:	n/a	n/a
6	FOS	chr4:110888932-110889353	HUVEC	blood vessel:	n/a	chr4:110889135-110889146
7	NR2F2	chr4:110888869-110889509	MCF-7	breast:	n/a	n/a
8	FOS	chr4:110888983-110889349	MCF10A-Er-Src	breast:	n/a	chr4:110889135-110889146
9	E2F4	chr4:110888959-110889159	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3AK20	chr4:110888750-110889551	MCF-7	breast:	n/a	n/a
11	CBX3	chr4:110888925-110889376	HCT-116	colon:	n/a	n/a
12	FOS	chr4:110888960-110889310	MCF10A-Er-Src	breast:	n/a	chr4:110889135-110889146
13	SP1	chr4:110888841-110889369	HCT-116	colon:	n/a	n/a
14	JUND	chr4:110888813-110889497	HCT-116	colon:	n/a	n/a
15	JUND	chr4:110888836-110889414	HCT-116	colon:	n/a	n/a
16	FOSL2	chr4:110888877-110889439	MCF-7	breast:	n/a	n/a
17	FOS	chr4:110888991-110889316	MCF10A-Er-Src	breast:	n/a	chr4:110889135-110889146
18	JUND	chr4:110888948-110889310	MCF-7	breast:	n/a	n/a
19	EP300	chr4:110888903-110889316	T-47D	breast:	n/a	n/a
20	GATA3	chr4:110888770-110889625	T-47D	breast:	n/a	n/a
21	FOS	chr4:110888981-110889328	MCF10A-Er-Src	breast:	n/a	chr4:110889135-110889146
22	FOSL2	chr4:110888931-110889395	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr4:110888943-110889543	T-47D	breast:	n/a	n/a
24	JUND	chr4:110888855-110889471	T-47D	breast:	n/a	n/a
25	JUND	chr4:110888909-110889400	MCF-7	breast:	n/a	n/a
26	GATA3	chr4:110888725-110889678	MCF-7	breast:	n/a	n/a
27	CEBPB	chr4:110888935-110889315	MCF-7	breast:	n/a	n/a
28	FOSL1	chr4:110888849-110889445	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:110884465..110887295-chr4:110887593..110889209,2	K562	blood:
2	chr4:110887831..110890473-chr4:110895882..110898637,2	MCF-7	breast:
3	chr4:110884397..110887295-chr4:110887313..110889209,2	K562	blood:

Variant related genes	Relation type
EGF	TF binding region
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10002971	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10011112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10014383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10017261	0.87[EUR][1000 genomes]
rs10023272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10029105	0.95[EUR][1000 genomes]
rs10029654	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs10213531	0.94[EUR][1000 genomes]
rs1024600	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10470911	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10488881	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11098056	0.91[EUR][1000 genomes]
rs11568903	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11568905	0.80[EUR][1000 genomes]
rs11568950	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11568994	0.87[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17238095	0.94[ASN][1000 genomes]
rs17253063	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17316633	0.94[ASN][1000 genomes]
rs2024114	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2067004	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs2190909	0.93[EUR][1000 genomes]
rs2237041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237045	0.94[EUR][1000 genomes]
rs2250616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282785	0.95[EUR][1000 genomes]
rs2298977	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2347136	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28437404	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28535066	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28540029	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28564978	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28629923	0.95[EUR][1000 genomes]
rs28672708	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28734982	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764861	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs3775967	0.95[EUR][1000 genomes]
rs3796945	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3796946	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs3822288	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs4279279	0.92[EUR][1000 genomes]
rs4698755	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs4698756	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs4698800	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs4698801	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs62327602	0.94[ASN][1000 genomes]
rs62327604	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6533481	0.95[EUR][1000 genomes]
rs6837717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6850557	0.83[CEU][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs7655579	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7668520	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs881878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9307347	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9991904	0.81[JPT][hapmap]
rs9992755	0.96[CEU][hapmap];0.95[EUR][1000 genomes]

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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
3	chr4:110884200-110893600	Weak transcription	Fetal Heart	heart
4	chr4:110885800-110897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
6	chr4:110887800-110889800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:110888000-110890400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:110888000-110891200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:110888200-110889600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:110888200-110890600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:110888200-110890600	Enhancers	HMEC	breast
12	chr4:110888200-110891000	Enhancers	HUVEC	blood vessel
13	chr4:110888200-110893800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:110888400-110889200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:110888400-110889800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:110888600-110889800	Enhancers	NH-A	brain
17	chr4:110888600-110890800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:110888800-110891200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:110889000-110889200	Enhancers	NHEK	skin
20	chr4:110889000-110890400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr4:110889000-110890600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:110889000-110891000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:110889000-110891600	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:110889000-110891800	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:110889000-110894000	Weak transcription	Duodenum Mucosa	Duodenum

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