Variant report

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:122686053-122688248	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr12:122686563-122687120	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr12:122686544-122687115	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
2	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
3	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
4	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
5	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
6	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
7	chr12:122685909..122687516-chr12:122700477..122703234,2	MCF-7	breast:
8	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:19)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11060802	MLXIP	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122677800-122687400	Weak transcription	Right Atrium	heart
2	chr12:122683400-122687400	Weak transcription	Pancreas	Pancrea
3	chr12:122683400-122687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122683800-122687400	Weak transcription	K562	blood
5	chr12:122685600-122687400	Weak transcription	Gastric	stomach
6	chr12:122685800-122687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:122686400-122687400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:122687000-122687400	Bivalent Enhancer	Primary T cells from cord blood	blood
9	chr12:122687000-122687400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:122687000-122687400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:122687000-122687600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:122687000-122687800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:122687000-122687800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

Quick Search: