Variant report

Variant	rs58160045
Chromosome Location	chr8:103428866-103428867
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	MBD4	chr8:103428594-103429178	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:103428247-103429160	HepG2	liver:	n/a	n/a
3	RXRA	chr8:103428703-103429069	HepG2	liver:	n/a	chr8:103428993-103429009
4	MAX	chr8:103428512-103429261	HepG2	liver:	n/a	n/a
5	BHLHE40	chr8:103428786-103429108	HepG2	liver:	n/a	n/a
6	RAD21	chr8:103428693-103429074	HepG2	liver:	n/a	n/a
7	NFIC	chr8:103428610-103429190	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:103428839-103429021	K562	blood:	n/a	n/a
9	FOXA1	chr8:103428603-103429213	HepG2	liver:	n/a	n/a
10	EGR1	chr8:103428755-103429037	K562	blood:	n/a	n/a
11	HNF4A	chr8:103428616-103429268	HepG2	liver:	n/a	chr8:103428996-103429008 chr8:103429021-103429033 chr8:103428998-103429005 chr8:103429020-103429035 chr8:103428993-103429009
12	FOXA1	chr8:103428663-103429254	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:103428698-103429084	K562	blood:	n/a	n/a
14	HDAC2	chr8:103428655-103429172	HepG2	liver:	n/a	chr8:103428988-103428997
15	CEBPB	chr8:103428689-103429037	HepG2	liver:	n/a	n/a
16	MYC	chr8:103428864-103429069	HepG2	liver:	n/a	n/a
17	NFIC	chr8:103428557-103429213	HepG2	liver:	n/a	n/a
18	EP300	chr8:103428485-103429399	HepG2	liver:	n/a	n/a
19	ARID3A	chr8:103428755-103429123	HepG2	liver:	n/a	n/a
20	EP300	chr8:103428782-103429105	HepG2	liver:	n/a	n/a
21	HNF4A	chr8:103428694-103429162	HepG2	liver:	n/a	chr8:103428996-103429008 chr8:103429021-103429033 chr8:103428998-103429005 chr8:103429020-103429035 chr8:103428993-103429009
22	SP1	chr8:103428624-103429271	HepG2	liver:	n/a	chr8:103428871-103428884
23	CEBPB	chr8:103428656-103429083	K562	blood:	n/a	n/a
24	FOXA1	chr8:103428665-103429148	HepG2	liver:	n/a	n/a
25	HDAC2	chr8:103428727-103429114	HepG2	liver:	n/a	chr8:103428988-103428997
26	FOXA1	chr8:103428675-103429221	HepG2	liver:	n/a	n/a
27	CEBPB	chr8:103428637-103429120	HepG2	liver:	n/a	n/a
28	TCF7L2	chr8:103428607-103429351	HepG2	liver:	n/a	n/a
29	SMC3	chr8:103428765-103429139	HepG2	liver:	n/a	n/a
30	TEAD4	chr8:103428436-103429395	HepG2	liver:	n/a	n/a
31	HNF4G	chr8:103428679-103429189	HepG2	liver:	n/a	chr8:103428996-103429008 chr8:103429021-103429033 chr8:103428998-103429005 chr8:103429020-103429035 chr8:103428993-103429009
32	MYBL2	chr8:103428538-103429279	HepG2	liver:	n/a	n/a
33	CEBPB	chr8:103428567-103429103	MCF-7	breast:	n/a	n/a
34	USF2	chr8:103428836-103429121	HepG2	liver:	n/a	n/a
35	SRF	chr8:103428692-103428986	HepG2	liver:	n/a	n/a
36	CEBPB	chr8:103428248-103429144	HepG2	liver:	n/a	n/a
37	EP300	chr8:103428673-103429215	HepG2	liver:	n/a	n/a
38	USF1	chr8:103428835-103429062	HepG2	liver:	n/a	n/a
39	NR2F2	chr8:103428548-103429270	HepG2	liver:	n/a	n/a
40	CEBPD	chr8:103428637-103429071	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr8:103428763-103429019	HepG2	liver:	n/a	n/a
42	GATA3	chr8:103428508-103429567	MCF-7	breast:	n/a	chr8:103428987-103428996 chr8:103428987-103428997 chr8:103428976-103428989 chr8:103428984-103429000 chr8:103428583-103428599
43	MYBL2	chr8:103428569-103429257	HepG2	liver:	n/a	n/a
44	ZEB1	chr8:103428627-103429216	HepG2	liver:	n/a	n/a
45	NR2F2	chr8:103428518-103429379	HepG2	liver:	n/a	n/a
46	CTCF	chr8:103428720-103428870	HepG2	liver:	n/a	n/a
47	HNF4G	chr8:103428664-103429187	HepG2	liver:	n/a	chr8:103428996-103429008 chr8:103429021-103429033 chr8:103428998-103429005 chr8:103429020-103429035 chr8:103428993-103429009
48	MBD4	chr8:103428605-103429212	HepG2	liver:	n/a	n/a
49	FOXA2	chr8:103428442-103429332	HepG2	liver:	n/a	n/a
50	TCF12	chr8:103428731-103429105	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103428267..103430247-chr8:103432746..103436160,3	K562	blood:

Variant related genes	Relation type
ENSG00000253923	TF binding region
RNU6ATAC8P	TF binding region
UBR5	TF binding region
ENSG00000221387	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1037698	1.00[ASN][1000 genomes]
rs10505023	1.00[ASN][1000 genomes]
rs10505026	1.00[ASN][1000 genomes]
rs11575866	1.00[ASN][1000 genomes]
rs11783533	1.00[ASN][1000 genomes]
rs16869246	1.00[ASN][1000 genomes]
rs17185155	1.00[ASN][1000 genomes]
rs17185245	1.00[ASN][1000 genomes]
rs17432015	1.00[ASN][1000 genomes]
rs17433890	1.00[ASN][1000 genomes]
rs17509673	1.00[ASN][1000 genomes]
rs17512347	1.00[ASN][1000 genomes]
rs17512821	1.00[ASN][1000 genomes]
rs1824194	1.00[ASN][1000 genomes]
rs28927372	1.00[ASN][1000 genomes]
rs28928568	1.00[ASN][1000 genomes]
rs28928570	1.00[ASN][1000 genomes]
rs28928575	1.00[ASN][1000 genomes]
rs28928577	1.00[ASN][1000 genomes]
rs28928583	1.00[ASN][1000 genomes]
rs28928584	1.00[ASN][1000 genomes]
rs28928588	1.00[ASN][1000 genomes]
rs28928589	1.00[ASN][1000 genomes]
rs28928594	1.00[ASN][1000 genomes]
rs28928595	1.00[ASN][1000 genomes]
rs28928599	1.00[ASN][1000 genomes]
rs28928601	1.00[ASN][1000 genomes]
rs28928602	1.00[ASN][1000 genomes]
rs28928606	1.00[ASN][1000 genomes]
rs28999688	1.00[ASN][1000 genomes]
rs28999709	1.00[ASN][1000 genomes]
rs29000269	1.00[ASN][1000 genomes]
rs29000275	1.00[ASN][1000 genomes]
rs29000279	1.00[ASN][1000 genomes]
rs29000280	1.00[ASN][1000 genomes]
rs29000281	1.00[ASN][1000 genomes]
rs29000284	1.00[ASN][1000 genomes]
rs3204695	1.00[ASN][1000 genomes]
rs34739767	1.00[ASN][1000 genomes]
rs35066978	1.00[ASN][1000 genomes]
rs4102401	1.00[ASN][1000 genomes]
rs56273032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60167504	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73285249	1.00[ASN][1000 genomes]
rs73285260	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73285269	0.96[EUR][1000 genomes]
rs7836803	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103425600-103429200	Weak transcription	Right Atrium	heart
2	chr8:103425600-103432600	Weak transcription	Left Ventricle	heart
3	chr8:103425800-103429200	Weak transcription	Placenta	Placenta
4	chr8:103425800-103434800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:103425800-103437800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:103425800-103439600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:103425800-103439600	Weak transcription	Fetal Stomach	stomach
8	chr8:103426000-103432200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:103426200-103439600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:103426400-103434800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103426600-103429000	Enhancers	K562	blood
12	chr8:103427600-103429400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:103427800-103429000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:103427800-103429600	Enhancers	Fetal Intestine Large	intestine
15	chr8:103428000-103429000	Enhancers	Primary B cells from cord blood	blood
16	chr8:103428200-103429800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:103428200-103430000	Weak transcription	GM12878-XiMat	blood
18	chr8:103428600-103429000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:103428600-103429000	Flanking Active TSS	HepG2	liver
20	chr8:103428800-103429000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:103428800-103429400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:103428800-103429600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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