Variant report

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:51421805-51423445	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:51156398..51158646-chr12:51422122..51423732,2	MCF-7	breast:
2	chr12:51156345..51159697-chr12:51418125..51424480,11	MCF-7	breast:
3	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
4	chr12:51414500..51424231-chr12:51435741..51444321,19	K562	blood:
5	chr12:51418513..51423622-chr12:51474378..51479071,10	MCF-7	breast:
6	chr12:51422213..51424368-chr12:51428694..51432123,3	MCF-7	breast:
7	chr12:51418785..51420716-chr12:51421022..51423680,2	K562	blood:
8	chr12:51422574..51424231-chr12:51439323..51441951,2	K562	blood:
9	chr12:51398011..51404686-chr12:51416862..51423754,14	MCF-7	breast:
10	chr12:51422433..51425067-chr12:51426862..51428458,2	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10876123	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12424509	0.82[EUR][1000 genomes]
rs12809226	0.84[ASN][1000 genomes]
rs12823317	0.84[ASN][1000 genomes]
rs149411	0.87[CEU][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2029145	0.82[CEU][hapmap]
rs224572	0.82[EUR][1000 genomes]
rs224575	0.96[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2359187	0.81[ASN][1000 genomes]
rs2544019	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2554856	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319931	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319936	0.87[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319939	0.87[CEU][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7961626	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs829017	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10783410	LETMD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51420600-51423800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:51420600-51423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:51422800-51424000	Enhancers	Placenta	Placenta
4	chr12:51422800-51424400	Enhancers	HepG2	liver
5	chr12:51422800-51432000	Weak transcription	Stomach Mucosa	stomach
6	chr12:51423000-51423800	Enhancers	Fetal Intestine Large	intestine
7	chr12:51423200-51423800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:51423200-51423800	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:51423200-51423800	Enhancers	Hela-S3	cervix
10	chr12:51423200-51423800	Enhancers	K562	blood
11	chr12:51423200-51424000	Enhancers	Fetal Intestine Small	intestine

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