Variant report

Variant	rs6926221
Chromosome Location	chr6:28601796-28601797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr6:28601175-28602069	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr6:28601726-28602150	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr6:28601335-28601906	H1-hESC	embryonic stem cell:	n/a	chr6:28601415-28601422
4	ATF2	chr6:28601483-28602049	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr6:28601424-28602137	A549	lung:	n/a	n/a
6	SP1	chr6:28601415-28601802	A549	lung:	n/a	n/a
7	MAFK	chr6:28601631-28602068	H1-hESC	embryonic stem cell:	n/a	n/a
8	ETS1	chr6:28601411-28602007	A549	lung:	n/a	n/a
9	SP4	chr6:28601697-28602048	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF7L2	chr6:28601518-28601971	HEK293	kidney:	n/a	n/a
11	ATF3	chr6:28601468-28602082	A549	lung:	n/a	n/a
12	MAX	chr6:28601338-28601813	H1-hESC	embryonic stem cell:	n/a	chr6:28601415-28601422
13	KAP1	chr6:28601523-28602919	U2OS	brain:	n/a	n/a
14	RFX5	chr6:28601660-28601890	H1-hESC	embryonic stem cell:	n/a	n/a
15	KAP1	chr6:28601225-28603443	HEK293	kidney:	n/a	n/a
16	CEBPB	chr6:28601734-28602006	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr6:28601513-28602110	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28582156..28586237-chr6:28601069..28603430,3	K562	blood:
2	chr6:28598566..28600689-chr6:28601579..28603852,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271440	TF binding region
ENSG00000232040	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12180700	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12211927	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319075	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1810619	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2394149	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs370520	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs380914	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs414205	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs420478	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4289643	0.80[ASN][1000 genomes]
rs436827	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs450630	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6456825	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6925714	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6926470	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7382146	0.81[EUR][1000 genomes]
rs9295772	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9295773	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9348810	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9378185	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380079	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380083	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9393920	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9393921	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9501180	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9885928	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28600600-28601800	Weak transcription	HepG2	liver
2	chr6:28601000-28604000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:28601200-28601800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:28601200-28602200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:28601200-28602200	Enhancers	Fetal Kidney	kidney
6	chr6:28601200-28603200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:28601200-28603800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:28601200-28603800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:28601200-28604000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:28601400-28602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:28601400-28602400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:28601400-28602600	Weak transcription	Pancreas	Pancrea
13	chr6:28601400-28604000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr6:28601600-28601800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:28601600-28602000	Enhancers	A549	lung
16	chr6:28601600-28603600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:28601600-28604200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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