Variant report

Variant	rs17041119
Chromosome Location	chr4:110894626-110894627
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:1)
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	EGR1	chr4:110894615-110894977	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA1	chr4:110894332-110895130	HepG2	liver:	n/a	n/a
3	FOXA2	chr4:110894445-110895219	HepG2	liver:	n/a	n/a
4	FOXA2	chr4:110894227-110894646	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:110894301-110895282	HepG2	liver:	n/a	n/a
6	MYBL2	chr4:110894613-110895164	HepG2	liver:	n/a	n/a
7	SIN3A	chr4:110894617-110894865	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr4:110894439-110894955	HepG2	liver:	n/a	n/a
9	JUN	chr4:110894456-110894811	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr4:110894593-110894964	HepG2	liver:	n/a	n/a
11	ZNF143	chr4:110894550-110894878	H1-hESC	embryonic stem cell:	n/a	n/a
12	EGR1	chr4:110894561-110894974	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10003648	1.00[AMR][1000 genomes]
rs10028950	1.00[AMR][1000 genomes]
rs10029493	1.00[AMR][1000 genomes]
rs10029774	1.00[AMR][1000 genomes]
rs11568956	1.00[AMR][1000 genomes]
rs11568969	1.00[AMR][1000 genomes]
rs11568970	1.00[AMR][1000 genomes]
rs11568976	1.00[AMR][1000 genomes]
rs11568977	1.00[AMR][1000 genomes]
rs11568979	1.00[AMR][1000 genomes]
rs11569009	1.00[AMR][1000 genomes]
rs11569099	1.00[AMR][1000 genomes]
rs17041111	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17041117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28733095	1.00[AMR][1000 genomes]
rs57694253	1.00[AMR][1000 genomes]
rs58489427	1.00[AMR][1000 genomes]
rs6822980	1.00[AMR][1000 genomes]
rs6824759	1.00[AMR][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:33 , 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	chr4:110893600-110894800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:110893600-110894800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:110893600-110895000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:110893600-110895000	Enhancers	Fetal Intestine Small	intestine
14	chr4:110893800-110895000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:110893800-110895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:110893800-110909600	Weak transcription	Fetal Heart	heart
17	chr4:110894000-110894800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:110894000-110894800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:110894000-110894800	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:110894000-110895600	Enhancers	Fetal Intestine Large	intestine
21	chr4:110894200-110894800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:110894200-110894800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:110894200-110894800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:110894200-110894800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:110894200-110894800	Flanking Active TSS	HepG2	liver
26	chr4:110894400-110894800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:110894400-110894800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:110894400-110894800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr4:110894400-110894800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr4:110894400-110894800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:110894400-110895000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr4:110894600-110894800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:110894600-110895000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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