Variant report

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:128352777-128353087	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr7:128352776-128353178	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128349572..128352222-chr7:128352293..128355252,3	MCF-7	breast:
2	chr7:128346113..128353140-chr7:128377714..128381349,8	K562	blood:
3	chr7:128343745..128346373-chr7:128352660..128354319,2	MCF-7	breast:
4	chr7:128351018..128352882-chr7:128354174..128355732,2	K562	blood:
5	chr7:128350704..128354157-chr7:128498864..128501415,3	K562	blood:
6	chr7:128351405..128353237-chr7:128393080..128396026,2	K562	blood:
7	chr7:128351186..128353763-chr7:128356302..128358427,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10230965	0.95[LWK][hapmap];0.82[MKK][hapmap];0.92[YRI][hapmap]
rs10251597	0.92[YRI][hapmap]
rs339072	0.83[ASW][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs339073	0.89[ASN][1000 genomes]
rs339092	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs731770	0.96[CHD][hapmap]
rs7794231	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10488627	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs10488627	RP11-274B21.10	cis	lung	GTEx
rs10488627	ZNF800	cis	parietal	SCAN
rs10488627	FAM71F2	cis	cerebellum	SCAN
rs10488627	TMEM209	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128346400-128353400	Weak transcription	HMEC	breast
3	chr7:128346400-128354000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:128346600-128353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:128349000-128354800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:128351000-128353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:128351000-128354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:128351200-128355000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:128351600-128353400	Weak transcription	NHEK	skin
13	chr7:128352600-128353000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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