Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:12715591-12715806	GM12878	blood:	n/a	chr6:12715689-12715702 chr6:12715689-12715700

Variant related genes	Relation type
PHACTR1	TF binding region

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011188	0.81[CEU][hapmap]
rs10498681	0.81[CEU][hapmap]
rs12525210	0.86[CEU][hapmap]
rs12526812	0.81[CEU][hapmap]
rs1571996	0.81[CEU][hapmap]
rs1572001	0.81[CEU][hapmap]
rs17616767	0.81[CEU][hapmap]
rs17678734	0.81[CEU][hapmap]
rs2015761	0.82[CEU][hapmap]
rs2151221	0.81[CEU][hapmap]
rs2876298	0.81[CEU][hapmap]
rs35278288	0.81[CEU][hapmap]
rs4577783	0.81[CEU][hapmap]
rs4583985	0.81[CEU][hapmap]
rs4711817	0.81[CEU][hapmap]
rs6915585	0.81[CEU][hapmap]
rs71553222	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768030	0.81[CEU][hapmap]
rs9369612	0.81[CEU][hapmap]
rs9381451	0.81[CEU][hapmap]
rs9463093	0.89[CEU][hapmap]
rs9463114	0.81[CEU][hapmap]
rs9463117	0.81[CEU][hapmap]
rs9463119	0.81[CEU][hapmap]
rs9472513	0.81[CEU][hapmap]
rs9472514	0.81[CEU][hapmap]
rs9472528	0.81[CEU][hapmap]
rs9472549	0.81[CEU][hapmap]
rs9472566	0.81[CEU][hapmap]

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16873301	MYLIP	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12709000-12722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:12709800-12716200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:12710200-12716200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:12710400-12718200	Weak transcription	HSMM	muscle
5	chr6:12710600-12718200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:12710600-12723400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:12710800-12718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:12710800-12729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:12711200-12716200	Weak transcription	Fetal Brain Female	brain
10	chr6:12711800-12716200	Weak transcription	Fetal Brain Male	brain
11	chr6:12712600-12715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:12712600-12725000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:12712800-12724800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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