Variant report

Variant	rs4435933
Chromosome Location	chr6:28584580-28584581
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28583650-28584614	K562	blood:	n/a	n/a
2	RCOR1	chr6:28583725-28584610	K562	blood:	n/a	n/a
3	TRIM28	chr6:28583376-28584674	K562	blood:	n/a	n/a
4	NR2F2	chr6:28582759-28584629	K562	blood:	n/a	n/a
5	CUX1	chr6:28583920-28584637	K562	blood:	n/a	n/a
6	CEBPB	chr6:28584270-28584583	K562	blood:	n/a	n/a
7	MYC	chr6:28583550-28584619	K562	blood:	n/a	chr6:28583600-28583609
8	MYC	chr6:28583412-28584607	K562	blood:	n/a	chr6:28583600-28583609
9	E2F6	chr6:28583745-28584757	K562	blood:	n/a	chr6:28583867-28583874
10	MAX	chr6:28583687-28584668	K562	blood:	n/a	n/a
11	UBTF	chr6:28583456-28584624	K562	blood:	n/a	n/a
12	BHLHE40	chr6:28583458-28584600	K562	blood:	n/a	n/a
13	MAX	chr6:28583438-28584625	K562	blood:	n/a	chr6:28583600-28583609
14	POLR2A	chr6:28583379-28584728	K562	blood:	n/a	n/a
15	TAF1	chr6:28583878-28584615	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr6:28583819-28584620	K562	blood:	n/a	n/a
17	TEAD4	chr6:28582640-28584736	K562	blood:	n/a	n/a
18	ATF3	chr6:28583368-28584626	K562	blood:	n/a	n/a
19	POLR2A	chr6:28582719-28584590	K562	blood:	n/a	n/a
20	POLR2A	chr6:28583807-28584596	H1-hESC	embryonic stem cell:	n/a	n/a
21	HEY1	chr6:28582731-28584674	K562	blood:	n/a	n/a
22	PML	chr6:28583326-28584688	K562	blood:	n/a	n/a
23	MAX	chr6:28583699-28584613	K562	blood:	n/a	n/a
24	CBX3	chr6:28583750-28584669	K562	blood:	n/a	n/a
25	CBX3	chr6:28583382-28584675	K562	blood:	n/a	n/a
26	POLR2A	chr6:28583315-28584669	K562	blood:	n/a	n/a
27	CEBPD	chr6:28583389-28584667	K562	blood:	n/a	n/a
28	IRF1	chr6:28583412-28584618	K562	blood:	n/a	chr6:28583895-28583904
29	MYC	chr6:28583396-28584636	K562	blood:	n/a	chr6:28583600-28583609
30	POLR2A	chr6:28583387-28584590	K562	blood:	n/a	n/a
31	E2F6	chr6:28583786-28584711	K562	blood:	n/a	chr6:28583867-28583874
32	E2F4	chr6:28583814-28584662	K562	blood:	n/a	chr6:28583867-28583874
33	POLR2A	chr6:28583421-28584584	K562	blood:	n/a	n/a
34	NR2F2	chr6:28582796-28584715	K562	blood:	n/a	n/a
35	POLR2A	chr6:28582792-28584666	K562	blood:	n/a	n/a
36	TEAD4	chr6:28583378-28584768	K562	blood:	n/a	n/a
37	JUND	chr6:28583418-28584611	K562	blood:	n/a	n/a
38	STAT5A	chr6:28583716-28584603	K562	blood:	n/a	chr6:28583758-28583781
39	E2F6	chr6:28583774-28584633	H1-hESC	embryonic stem cell:	n/a	chr6:28583867-28583874
40	MAX	chr6:28583778-28584646	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr6:28583377-28584590	K562	blood:	n/a	chr6:28583600-28583609
42	YY1	chr6:28583723-28584722	K562	blood:	n/a	n/a
43	MYC	chr6:28583526-28584608	K562	blood:	n/a	chr6:28583600-28583609
44	CEBPB	chr6:28583342-28584605	K562	blood:	n/a	chr6:28583600-28583611
45	E2F6	chr6:28583683-28584772	H1-hESC	embryonic stem cell:	n/a	chr6:28583867-28583874
46	MAX	chr6:28583771-28584659	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28582156..28586237-chr6:28601069..28603430,3	K562	blood:
2	chr6:28373602..28375467-chr6:28584083..28586880,2	K562	blood:
3	chr6:28366328..28369247-chr6:28582607..28584582,2	K562	blood:
4	chr6:28556555..28559076-chr6:28582763..28585041,2	K562	blood:
5	chr6:28233569..28236323-chr6:28583574..28585743,2	K562	blood:
6	chr6:28579846..28585618-chr6:28609150..28616432,10	K562	blood:
7	chr6:28366328..28368330-chr6:28583082..28585639,2	K562	blood:
8	chr6:28583985..28585633-chr6:28910730..28913227,2	K562	blood:

No data

Variant related genes	Relation type
SCAND3	TF binding region
ENSG00000232040	Chromatin interaction
ENSG00000272278	Chromatin interaction
ENSG00000271440	Chromatin interaction
ENSG00000197062	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000204709	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11753292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754112	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757235	1.00[ASN][1000 genomes]
rs11758822	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110753	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111360	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1319076	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28382587	1.00[ASN][1000 genomes]
rs2893967	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34211304	1.00[ASN][1000 genomes]
rs34560199	1.00[ASN][1000 genomes]
rs34668037	1.00[ASN][1000 genomes]
rs3886843	1.00[ASN][1000 genomes]
rs56958518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73391123	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73402976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402978	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402982	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402983	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404961	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73404965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73407134	0.88[AFR][1000 genomes]
rs73407157	0.92[AFR][1000 genomes]
rs73407159	0.92[AFR][1000 genomes]
rs73409121	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73409125	1.00[ASN][1000 genomes]
rs73409140	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7738979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7770993	0.88[AFR][1000 genomes]
rs7774808	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1031671	chr6:28575172-28678126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr6:28580800-28585400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:28583600-28584800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:28583600-28584800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:28583800-28584600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:28583800-28584600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:28583800-28584600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:28584000-28584600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:28584200-28584600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:28584200-28584600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:28584200-28584600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:28584200-28584600	Active TSS	Placenta	Placenta
12	chr6:28584200-28584600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
13	chr6:28584200-28585000	Flanking Active TSS	K562	blood
14	chr6:28584400-28584600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr6:28584400-28584600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr6:28584400-28584600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:28584400-28584600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:28584400-28584600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:28584400-28584600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr6:28584400-28584800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:28584400-28586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:28584400-28588800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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