Variant report

Variant	rs72906514
Chromosome Location	chr6:88416570-88416571
allele	A/G
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	FOS	chr6:88416380-88416724	MCF10A-Er-Src	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416543-88416550
2	FOSL2	chr6:88416222-88416849	SK-N-SH	brain:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416718-88416730 chr6:88416543-88416550
3	FOSL2	chr6:88416256-88416857	MCF-7	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416718-88416730 chr6:88416543-88416550
4	SIN3AK20	chr6:88416279-88417025	MCF-7	breast:	n/a	n/a
5	JUND	chr6:88416235-88416751	Hela-S3	cervix:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
6	FOS	chr6:88416354-88416754	MCF10A-Er-Src	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416718-88416730 chr6:88416543-88416550
7	GATA3	chr6:88416221-88416860	SK-N-SH	brain:	n/a	chr6:88416543-88416552
8	JUND	chr6:88416323-88416951	MCF-7	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
9	JUND	chr6:88416262-88416911	T-47D	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
10	BACH1	chr6:88416390-88416711	K562	blood:	n/a	chr6:88416539-88416553
11	GATA3	chr6:88416331-88416835	T-47D	breast:	n/a	chr6:88416543-88416552
12	MAFF	chr6:88416373-88416728	K562	blood:	n/a	n/a
13	GATA3	chr6:88416241-88417020	MCF-7	breast:	n/a	chr6:88416543-88416552
14	RCOR1	chr6:88416464-88416615	K562	blood:	n/a	n/a
15	HDAC2	chr6:88416359-88416880	MCF-7	breast:	n/a	n/a
16	ZNF143	chr6:88416466-88416641	Hela-S3	cervix:	n/a	n/a
17	TCF7L2	chr6:88416399-88416744	MCF-7	breast:	n/a	chr6:88416542-88416551 chr6:88416541-88416550
18	FOS	chr6:88416366-88416722	MCF10A-Er-Src	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416543-88416550
19	JUN	chr6:88416277-88416693	Hela-S3	cervix:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416543-88416550
20	JUND	chr6:88415995-88416921	K562	blood:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
21	JUND	chr6:88416334-88416824	MCF-7	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
22	GATA3	chr6:88415944-88417172	MCF-7	breast:	n/a	chr6:88416543-88416552
23	GATA3	chr6:88416352-88416898	T-47D	breast:	n/a	chr6:88416543-88416552
24	CEBPB	chr6:88416369-88416735	A549	lung:	n/a	n/a
25	JUN	chr6:88416462-88416715	HepG2	liver:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416543-88416550
26	GATA3	chr6:88416375-88416855	MCF-7	breast:	n/a	chr6:88416543-88416552
27	EP300	chr6:88416296-88416823	A549	lung:	n/a	chr6:88416541-88416550 chr6:88416542-88416551
28	FOSL2	chr6:88416353-88416718	A549	lung:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416543-88416550
29	ZNF217	chr6:88416464-88416991	MCF-7	breast:	n/a	n/a
30	MAFK	chr6:88416408-88417059	IMR90	lung:	n/a	chr6:88416540-88416550 chr6:88416540-88416549
31	FOSL2	chr6:88416265-88416736	MCF-7	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416718-88416730 chr6:88416543-88416550
32	STAT3	chr6:88416430-88416588	MCF10A-Er-Src	breast:	n/a	chr6:88416542-88416551 chr6:88416541-88416550
33	GATA3	chr6:88416103-88416892	SK-N-SH	brain:	n/a	chr6:88416543-88416552
34	EP300	chr6:88416353-88416639	Hela-S3	cervix:	n/a	chr6:88416541-88416550 chr6:88416542-88416551
35	CEBPB	chr6:88416386-88416833	MCF-7	breast:	n/a	n/a
36	MAFK	chr6:88416363-88416714	K562	blood:	n/a	chr6:88416540-88416550 chr6:88416540-88416549
37	JUND	chr6:88416379-88416719	HepG2	liver:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416543-88416550
38	ZC3H11A	chr6:88416386-88416580	K562	blood:	n/a	n/a
39	JUND	chr6:88415756-88416935	SK-N-SH	brain:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
40	NR2F2	chr6:88416175-88416750	K562	blood:	n/a	n/a
41	GATA3	chr6:88416426-88416882	MCF-7	breast:	n/a	chr6:88416543-88416552
42	FOSL2	chr6:88415842-88416938	A549	lung:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416718-88416730 chr6:88416543-88416550
43	FOXA1	chr6:88416383-88416795	T-47D	breast:	n/a	n/a
44	FOXM1	chr6:88416222-88417009	MCF-7	breast:	n/a	n/a
45	NR2F2	chr6:88416244-88416921	MCF-7	breast:	n/a	n/a
46	RCOR1	chr6:88416481-88416602	K562	blood:	n/a	n/a
47	GATA3	chr6:88416128-88417098	A549	lung:	n/a	chr6:88416543-88416552
48	JUND	chr6:88416225-88416805	SK-N-SH	brain:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
49	FOS	chr6:88416353-88416731	MCF10A-Er-Src	breast:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416718-88416730 chr6:88416543-88416550
50	FOSL1	chr6:88416359-88416694	HCT-116	colon:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416543-88416550

No.	Distal block	Cell Line	Cell type
1	chr6:88416503..88418368-chr6:88427552..88429182,2	MCF-7	breast:
2	chr6:88415419..88418408-chr6:88419849..88421936,2	K562	blood:
3	chr6:88414869..88417780-chr6:88431598..88434041,2	K562	blood:
4	chr6:88415578..88418396-chr6:88423147..88424989,2	K562	blood:
5	chr6:88415099..88417482-chr6:88428698..88430339,2	MCF-7	breast:
6	chr6:88409819..88412210-chr6:88413851..88416889,3	MCF-7	breast:

Variant related genes	Relation type
AKIRIN2	TF binding region
ENSG00000135334	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12190308	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16879704	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16879736	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28381530	0.86[EUR][1000 genomes]
rs3763177	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41273297	0.85[EUR][1000 genomes]
rs56400749	0.84[EUR][1000 genomes]
rs58060521	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59131518	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774543	0.85[EUR][1000 genomes]
rs60082015	0.86[EUR][1000 genomes]
rs66502414	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66588280	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66965134	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67063139	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67575319	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67700862	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67993159	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68082038	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs715207	0.86[EUR][1000 genomes]
rs72924342	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7747792	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7748286	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776049	0.93[EUR][1000 genomes]
rs9450782	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758068	chr6:88358988-88441473	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2759454	chr6:88358988-88441473	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88412800-88432600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:88413000-88416600	Weak transcription	Fetal Heart	heart
3	chr6:88413000-88416600	Weak transcription	HMEC	breast
4	chr6:88413000-88416800	Weak transcription	HSMM	muscle
5	chr6:88413000-88421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:88413200-88416600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:88413200-88416600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:88413200-88416600	Weak transcription	Hela-S3	cervix
9	chr6:88413200-88424200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:88414200-88417200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:88415000-88417400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:88415400-88416600	Weak transcription	NH-A	brain
13	chr6:88415400-88416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:88415400-88417200	Enhancers	K562	blood
15	chr6:88415400-88417600	Enhancers	GM12878-XiMat	blood
16	chr6:88415400-88419800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:88415800-88417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:88416000-88416600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:88416000-88417400	Enhancers	Osteobl	bone
20	chr6:88416200-88416600	Weak transcription	NHLF	lung
21	chr6:88416400-88417200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:88416400-88417200	Flanking Active TSS	A549	lung
23	chr6:88416400-88417600	Enhancers	NHDF-Ad	bronchial

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