Variant report

Variant	rs55639061
Chromosome Location	chr7:26589833-26589834
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	MAX	chr7:26588906-26589907	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr7:26589798-26589901	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr7:26589103-26590112	HCT-116	colon:	n/a	n/a
4	FOS	chr7:26589670-26589975	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr7:26589264-26589998	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr7:26589202-26589970	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr7:26588934-26590129	ECC-1	luminal epithelium:	n/a	n/a
8	STAT3	chr7:26589167-26589951	MCF10A-Er-Src	breast:	n/a	chr7:26589470-26589482 chr7:26589413-26589421
9	MYC	chr7:26589236-26589998	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr7:26589822-26589894	MCF10A-Er-Src	breast:	n/a	n/a
11	USF2	chr7:26589756-26589891	Hela-S3	cervix:	n/a	chr7:26589799-26589810
12	MAX	chr7:26588975-26590087	HCT-116	colon:	n/a	n/a
13	RCOR1	chr7:26589101-26589896	Hela-S3	cervix:	n/a	n/a
14	TFAP2C	chr7:26588984-26589837	Hela-S3	cervix:	n/a	n/a
15	FOS	chr7:26589235-26589995	MCF10A-Er-Src	breast:	n/a	chr7:26589507-26589521
16	FOS	chr7:26589648-26590006	MCF10A-Er-Src	breast:	n/a	n/a
17	CHD2	chr7:26589140-26589847	Hela-S3	cervix:	n/a	n/a
18	EP300	chr7:26589070-26589877	Hela-S3	cervix:	n/a	n/a
19	SMARCB1	chr7:26588866-26590632	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr7:26589070-26589864	Hela-S3	cervix:	n/a	n/a
21	TCF7L2	chr7:26588922-26589895	Hela-S3	cervix:	n/a	n/a
22	FOS	chr7:26589184-26590006	MCF10A-Er-Src	breast:	n/a	chr7:26589507-26589521

Variant related genes	Relation type
ENSG00000233760	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10240247	1.00[ASN][1000 genomes]
rs10253181	1.00[ASN][1000 genomes]
rs12154305	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349657	0.89[ASN][1000 genomes]
rs55644320	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55668747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55687119	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55703313	0.83[EUR][1000 genomes]
rs55715725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55779830	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55992393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56099614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56157887	1.00[ASN][1000 genomes]
rs56158033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56171200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56325361	1.00[ASN][1000 genomes]
rs56408177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953881	1.00[ASN][1000 genomes]
rs6970244	1.00[ASN][1000 genomes]
rs6974982	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26578800-26591600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:26582400-26592200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:26586800-26595600	Weak transcription	Fetal Kidney	kidney
4	chr7:26588000-26595000	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:26588000-26596600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:26588200-26590600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:26588200-26590600	Enhancers	HMEC	breast
8	chr7:26588800-26590600	Enhancers	NHEK	skin
9	chr7:26588800-26591000	Enhancers	Spleen	Spleen
10	chr7:26589000-26590600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:26589000-26590600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:26589000-26590600	Enhancers	Fetal Thymus	thymus
13	chr7:26589000-26595800	Weak transcription	Lung	lung
14	chr7:26589200-26590000	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr7:26589600-26598000	Weak transcription	Right Atrium	heart
16	chr7:26589800-26591600	Enhancers	Hela-S3	cervix
17	chr7:26589800-26594400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:26589800-26595800	Weak transcription	Gastric	stomach

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