Variant report

Variant	rs17253063
Chromosome Location	chr4:110894449-110894450
allele	A/G
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	FOXA1	chr4:110894332-110895130	HepG2	liver:	n/a	n/a
2	FOXA2	chr4:110894445-110895219	HepG2	liver:	n/a	n/a
3	FOXA2	chr4:110894227-110894646	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:110894171-110894614	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:110894301-110895282	HepG2	liver:	n/a	n/a
6	MXI1	chr4:110894439-110894955	HepG2	liver:	n/a	n/a
7	CTCF	chr4:110894420-110894570	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110888945..110892290-chr4:110892815..110895828,3	MCF-7	breast:

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10002971	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011112	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10014383	0.87[EUR][1000 genomes]
rs10023272	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10029105	0.86[EUR][1000 genomes]
rs10029654	0.86[EUR][1000 genomes]
rs10213531	0.85[EUR][1000 genomes]
rs1024600	0.87[EUR][1000 genomes]
rs10470911	0.87[EUR][1000 genomes]
rs10488881	0.87[EUR][1000 genomes]
rs11098056	0.82[EUR][1000 genomes]
rs11568950	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11568972	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11568994	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569100	0.85[AMR][1000 genomes]
rs2024114	0.85[EUR][1000 genomes]
rs2067004	0.86[EUR][1000 genomes]
rs2190909	0.84[EUR][1000 genomes]
rs2237041	0.86[EUR][1000 genomes]
rs2237045	0.85[EUR][1000 genomes]
rs2250616	0.85[EUR][1000 genomes]
rs2282785	0.86[EUR][1000 genomes]
rs2298977	0.86[EUR][1000 genomes]
rs2347136	0.85[EUR][1000 genomes]
rs28437404	0.86[EUR][1000 genomes]
rs28535066	0.84[EUR][1000 genomes]
rs28540029	0.88[EUR][1000 genomes]
rs28564978	0.88[EUR][1000 genomes]
rs28629923	0.86[EUR][1000 genomes]
rs28672708	0.86[EUR][1000 genomes]
rs28734982	0.85[EUR][1000 genomes]
rs3764861	0.87[EUR][1000 genomes]
rs3775967	0.86[EUR][1000 genomes]
rs3796945	0.88[EUR][1000 genomes]
rs3796946	0.86[EUR][1000 genomes]
rs3822288	0.86[EUR][1000 genomes]
rs4279279	0.83[EUR][1000 genomes]
rs4698755	0.86[EUR][1000 genomes]
rs4698756	0.86[EUR][1000 genomes]
rs4698800	0.86[EUR][1000 genomes]
rs4698801	0.86[EUR][1000 genomes]
rs62325265	0.88[AMR][1000 genomes]
rs62327604	0.85[EUR][1000 genomes]
rs6533481	0.86[EUR][1000 genomes]
rs6837717	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6850557	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655579	0.86[EUR][1000 genomes]
rs7668520	0.86[EUR][1000 genomes]
rs881878	0.86[EUR][1000 genomes]
rs9307347	0.88[EUR][1000 genomes]
rs9991904	0.88[AMR][1000 genomes]
rs9992755	0.86[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:36 , 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	chr4:110885800-110897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
5	chr4:110890400-110900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:110891200-110900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:110891600-110895400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:110891600-110896400	Weak transcription	Spleen	Spleen
9	chr4:110891800-110900000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:110893400-110894600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:110893600-110894800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:110893600-110894800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:110893600-110895000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:110893600-110895000	Enhancers	Fetal Intestine Small	intestine
15	chr4:110893800-110894600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:110893800-110895000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:110893800-110895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:110893800-110909600	Weak transcription	Fetal Heart	heart
19	chr4:110894000-110894800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:110894000-110894800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:110894000-110894800	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:110894000-110895600	Enhancers	Fetal Intestine Large	intestine
23	chr4:110894200-110894600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr4:110894200-110894600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:110894200-110894600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr4:110894200-110894800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr4:110894200-110894800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:110894200-110894800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:110894200-110894800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:110894200-110894800	Flanking Active TSS	HepG2	liver
31	chr4:110894400-110894800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:110894400-110894800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr4:110894400-110894800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:110894400-110894800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:110894400-110894800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr4:110894400-110895000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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