Variant report

(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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12662929	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16894169	0.81[EUR][1000 genomes]
rs16894171	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16894191	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2057296	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711174	0.94[ASN][1000 genomes]
rs4711175	0.96[ASN][1000 genomes]
rs4711178	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4713173	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4713175	0.94[AFR][1000 genomes]
rs4947335	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55776584	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55963280	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs58490223	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62402381	0.94[ASN][1000 genomes]
rs62402392	0.94[AFR][1000 genomes]
rs62402394	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62406542	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7743296	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7746909	0.81[EUR][1000 genomes]
rs7767144	0.81[EUR][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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