Variant report

Variant	rs4458772
Chromosome Location	chr7:140091472-140091473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:140091410-140091868	K562	blood:	n/a	n/a
2	CEBPB	chr7:140091452-140091830	K562	blood:	n/a	n/a
3	RCOR1	chr7:140091446-140091996	K562	blood:	n/a	n/a
4	IRF1	chr7:140091456-140091849	K562	blood:	n/a	n/a
5	CCNT2	chr7:140091435-140091817	K562	blood:	n/a	n/a
6	CUX1	chr7:140091466-140091764	K562	blood:	n/a	n/a
7	GATA2	chr7:140091322-140091883	K562	blood:	n/a	n/a
8	STAT5A	chr7:140091342-140091844	K562	blood:	n/a	n/a
9	TEAD4	chr7:140091354-140091912	K562	blood:	n/a	n/a
10	TEAD4	chr7:140091305-140091934	K562	blood:	n/a	n/a
11	NR2F2	chr7:140091290-140091952	K562	blood:	n/a	n/a
12	HDAC2	chr7:140091442-140091877	K562	blood:	n/a	n/a
13	MYC	chr7:140091438-140091782	K562	blood:	n/a	n/a
14	IRF1	chr7:140091428-140091854	K562	blood:	n/a	n/a
15	MAX	chr7:140091449-140091726	K562	blood:	n/a	n/a
16	BHLHE40	chr7:140091425-140091868	K562	blood:	n/a	n/a
17	TRIM28	chr7:140091314-140091950	K562	blood:	n/a	n/a
18	GATA2	chr7:140091450-140092020	K562	blood:	n/a	n/a
19	CEBPD	chr7:140091374-140091978	K562	blood:	n/a	n/a
20	CEBPB	chr7:140091452-140091887	K562	blood:	n/a	n/a
21	MAFF	chr7:140091448-140091801	K562	blood:	n/a	n/a
22	PML	chr7:140091309-140091934	K562	blood:	n/a	n/a
23	TBL1XR1	chr7:140091363-140091874	K562	blood:	n/a	n/a
24	EP300	chr7:140091426-140091883	K562	blood:	n/a	n/a
25	RCOR1	chr7:140091395-140092076	K562	blood:	n/a	n/a
26	POLR2A	chr7:140091381-140092499	K562	blood:	n/a	n/a
27	CBX3	chr7:140091350-140091902	K562	blood:	n/a	n/a
28	STAT5A	chr7:140091348-140091923	K562	blood:	n/a	n/a
29	CEBPD	chr7:140091354-140091913	K562	blood:	n/a	n/a
30	GATA1	chr7:140091362-140091868	PBDE	blood:	n/a	n/a
31	NR2F2	chr7:140091374-140091902	K562	blood:	n/a	n/a
32	POLR2A	chr7:140091466-140092519	K562	blood:	n/a	n/a
33	POLR2A	chr7:140091347-140091864	K562	blood:	n/a	n/a
34	HDAC2	chr7:140091404-140091865	K562	blood:	n/a	n/a
35	CBX3	chr7:140091433-140091848	K562	blood:	n/a	n/a
36	TAL1	chr7:140091392-140091910	K562	blood:	n/a	n/a
37	GATA1	chr7:140090497-140092653	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140090494..140093005-chr7:140100904..140104008,3	K562	blood:
2	chr7:140089947..140093642-chr7:140094794..140098474,3	MCF-7	breast:
3	chr7:139234225..139236433-chr7:140089935..140091849,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP248	TF binding region
ENSG00000157800	Chromatin interaction
ENSG00000146955	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10231057	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10452839	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10452887	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726784	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6464736	0.85[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956248	0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968618	0.85[CHB][hapmap];0.88[CHD][hapmap];0.93[ASN][1000 genomes]
rs73163246	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9791871	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
4	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus
6	chr7:140076800-140096200	Weak transcription	NHLF	lung
7	chr7:140080200-140095800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:140080200-140096000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:140080200-140097200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:140080200-140097200	Weak transcription	HSMMtube	muscle
11	chr7:140080200-140097600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:140080600-140096200	Weak transcription	HepG2	liver
13	chr7:140080600-140097400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:140080800-140096200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:140081400-140097200	Weak transcription	Brain Germinal Matrix	brain
16	chr7:140081800-140093000	Weak transcription	Fetal Intestine Small	intestine
17	chr7:140082200-140093000	Weak transcription	Fetal Stomach	stomach
18	chr7:140082200-140096200	Weak transcription	Fetal Lung	lung
19	chr7:140082200-140097000	Weak transcription	Fetal Brain Female	brain
20	chr7:140082200-140097400	Weak transcription	Right Ventricle	heart
21	chr7:140082400-140092800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:140082400-140093000	Weak transcription	Lung	lung
23	chr7:140082400-140093200	Weak transcription	Left Ventricle	heart
24	chr7:140082400-140095800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:140082400-140096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:140082400-140096000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:140082400-140096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:140082400-140096600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:140082400-140096600	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:140082400-140097000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:140082400-140097200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:140082400-140097200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:140082400-140097400	Weak transcription	Fetal Intestine Large	intestine
34	chr7:140082400-140097400	Weak transcription	Ovary	ovary
35	chr7:140084600-140096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:140084800-140093000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:140085000-140093000	Weak transcription	NHEK	skin
38	chr7:140085600-140091600	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:140086200-140097200	Weak transcription	Psoas Muscle	Psoas
40	chr7:140086600-140092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:140086600-140096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:140086800-140092800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:140086800-140097200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:140087600-140093400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr7:140088800-140092000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:140088800-140092600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr7:140089000-140092000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:140089000-140092000	Enhancers	Primary B cells from peripheral blood	blood
49	chr7:140089000-140092200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr7:140089200-140092200	Enhancers	H9 Cell Line	embryonic stem cell

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