Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:45420681-45420974	HepG2	liver:	n/a	n/a
2	RAD21	chr11:45420721-45420990	SK-N-SH_RA	brain:	n/a	n/a
3	BATF	chr11:45420774-45420989	GM12878	blood:	n/a	n/a
4	RAD21	chr11:45420684-45421005	HepG2	liver:	n/a	n/a
5	CTCF	chr11:45420852-45420922	MCF-7	breast:	n/a	n/a
6	RAD21	chr11:45420634-45421042	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:45420748-45420937	HepG2	liver:	n/a	n/a
8	RAD21	chr11:45420752-45420952	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr11:45420671-45420963	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr11:45420779-45420920	SK-N-SH_RA	brain:	n/a	n/a
11	SMC3	chr11:45420784-45420917	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000254651	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10734532	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10742751	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838468	0.83[ASN][1000 genomes]
rs11038441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11038449	0.88[AMR][1000 genomes]
rs12282689	0.83[ASN][1000 genomes]
rs12284900	0.83[ASN][1000 genomes]
rs12286627	0.83[ASN][1000 genomes]
rs12288173	0.83[ASN][1000 genomes]
rs1387056	0.83[ASN][1000 genomes]
rs1811494	0.91[AMR][1000 genomes]
rs1868912	0.83[ASN][1000 genomes]
rs2044871	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2863706	1.00[GIH][hapmap];0.82[TSI][hapmap];0.93[AMR][1000 genomes]
rs4755983	0.88[AMR][1000 genomes]
rs4755985	0.83[ASN][1000 genomes]
rs7931345	0.88[AMR][1000 genomes]
rs7935711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7945142	0.84[AMR][1000 genomes]
rs921455	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv1812422	chr11:45419113-45431510	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	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
rs2044873	API5	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45407000-45421000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45415200-45421000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45415800-45421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:45416000-45423400	Weak transcription	Spleen	Spleen
6	chr11:45418800-45421400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:45420200-45423800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:45420600-45421600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:45420600-45421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:45420600-45423000	Weak transcription	Lung	lung

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