Variant report

Variant	rs6925972
Chromosome Location	chr6:28601934-28601935
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 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	ATF2	chr6:28601483-28602049	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr6:28601424-28602137	A549	lung:	n/a	n/a
5	MAFK	chr6:28601631-28602068	H1-hESC	embryonic stem cell:	n/a	n/a
6	ETS1	chr6:28601411-28602007	A549	lung:	n/a	n/a
7	SP4	chr6:28601697-28602048	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF7L2	chr6:28601518-28601971	HEK293	kidney:	n/a	n/a
9	ATF3	chr6:28601468-28602082	A549	lung:	n/a	n/a
10	KAP1	chr6:28601523-28602919	U2OS	brain:	n/a	n/a
11	KAP1	chr6:28601225-28603443	HEK293	kidney:	n/a	n/a
12	CEBPB	chr6:28601734-28602006	H1-hESC	embryonic stem cell:	n/a	n/a
13	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: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10080420	0.81[ASN][1000 genomes]
rs10434846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733177	1.00[ASN][1000 genomes]
rs10755647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807036	0.83[ASN][1000 genomes]
rs10807040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332986	0.81[ASN][1000 genomes]
rs1474986	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2057295	1.00[ASN][1000 genomes]
rs2108924	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2191036	0.81[ASN][1000 genomes]
rs2394119	1.00[ASN][1000 genomes]
rs28382606	1.00[ASN][1000 genomes]
rs2859375	1.00[JPT][hapmap]
rs34358978	0.93[ASN][1000 genomes]
rs34931542	0.93[ASN][1000 genomes]
rs381493	1.00[ASN][1000 genomes]
rs384399	1.00[ASN][1000 genomes]
rs3852211	1.00[ASN][1000 genomes]
rs389603	1.00[ASN][1000 genomes]
rs392471	0.88[ASN][1000 genomes]
rs394772	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399558	0.97[ASN][1000 genomes]
rs3999023	1.00[ASN][1000 genomes]
rs402426	1.00[ASN][1000 genomes]
rs404343	1.00[ASN][1000 genomes]
rs408255	1.00[ASN][1000 genomes]
rs411538	1.00[ASN][1000 genomes]
rs4121090	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418628	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418898	1.00[ASN][1000 genomes]
rs420436	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420463	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422089	0.97[ASN][1000 genomes]
rs424426	1.00[ASN][1000 genomes]
rs426922	1.00[ASN][1000 genomes]
rs429875	1.00[ASN][1000 genomes]
rs434636	1.00[ASN][1000 genomes]
rs442174	0.90[ASN][1000 genomes]
rs443924	1.00[ASN][1000 genomes]
rs449074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454746	1.00[ASN][1000 genomes]
rs4711176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713174	1.00[ASN][1000 genomes]
rs5007575	0.94[ASN][1000 genomes]
rs55860825	1.00[ASN][1000 genomes]
rs6456820	0.81[ASN][1000 genomes]
rs6456829	1.00[ASN][1000 genomes]
rs6456832	1.00[ASN][1000 genomes]
rs6456833	1.00[ASN][1000 genomes]
rs6899512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6906826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923163	1.00[ASN][1000 genomes]
rs6927023	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6935589	0.93[ASN][1000 genomes]
rs6937042	0.93[ASN][1000 genomes]
rs6941222	0.81[ASN][1000 genomes]
rs7381746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7382159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7382309	1.00[ASN][1000 genomes]
rs7382583	1.00[ASN][1000 genomes]
rs7761914	1.00[ASN][1000 genomes]
rs7771490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773193	1.00[ASN][1000 genomes]
rs911177	1.00[ASN][1000 genomes]
rs911178	0.88[ASN][1000 genomes]
rs9393922	1.00[ASN][1000 genomes]
rs9393923	1.00[ASN][1000 genomes]
rs9461464	0.93[ASN][1000 genomes]
rs9468384	0.81[ASN][1000 genomes]
rs9468394	1.00[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:19 , 50 per page) page: 1

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

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