Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:99422229-99422652	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:99422325-99422643	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr7:99422331-99422591	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr7:99422280-99422739	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr7:99422206-99422591	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:99422425-99422543	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99412647..99414218-chr7:99422343..99425321,2	K562	blood:
2	chr7:99422341..99424566-chr7:99425014..99427812,3	K562	blood:
3	chr7:99422031..99424143-chr7:99425107..99427446,2	K562	blood:
4	chr7:99412647..99414834-chr7:99418684..99423843,4	K562	blood:

Variant related genes	Relation type
CYP3A43	TF binding region
ENSG00000021461	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1036374	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11734	1.00[TSI][hapmap]
rs12535293	1.00[GIH][hapmap]
rs12535919	1.00[GIH][hapmap]
rs17161971	1.00[GIH][hapmap]
rs17161974	1.00[GIH][hapmap]
rs17161981	1.00[GIH][hapmap]
rs17161983	1.00[GIH][hapmap]
rs1851426	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2023548	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103030	0.91[EUR][1000 genomes]
rs2461610	0.91[EUR][1000 genomes]
rs2687105	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2687116	0.87[EUR][1000 genomes]
rs2738262	0.91[EUR][1000 genomes]
rs2740566	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs2740574	0.91[EUR][1000 genomes]
rs28988583	0.95[EUR][1000 genomes]
rs4281055	0.87[EUR][1000 genomes]
rs6956305	1.00[TSI][hapmap]
rs6976017	1.00[TSI][hapmap]
rs73393660	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs892753	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17161937	PILRB	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99419400-99432200	Enhancers	Fetal Intestine Small	intestine
2	chr7:99419600-99432000	Enhancers	Fetal Intestine Large	intestine
3	chr7:99420000-99424000	Enhancers	Adipose Nuclei	Adipose
4	chr7:99420600-99422800	Weak transcription	K562	blood
5	chr7:99420600-99424800	Enhancers	Pancreas	Pancrea
6	chr7:99420600-99425200	Enhancers	HepG2	liver
7	chr7:99421000-99423200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:99421000-99425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:99421000-99426400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:99421200-99423400	Enhancers	Fetal Muscle Leg	muscle
11	chr7:99421400-99422800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:99421400-99424400	Weak transcription	Stomach Mucosa	stomach
13	chr7:99421600-99423000	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:99422000-99422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:99422200-99424200	Enhancers	Liver	Liver

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