Variant report

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:11800858-11801340	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:11800882-11801331	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:11800903-11801319	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:11800884-11801370	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:11800508..11802179-chr12:11860722..11862273,2	MCF-7	breast:
2	chr12:11800455..11804262-chr12:12036773..12041762,7	MCF-7	breast:
3	chr12:11786072..11788465-chr12:11800287..11802406,2	K562	blood:
4	chr12:11784813..11787611-chr12:11800177..11801948,2	MCF-7	breast:
5	chr12:11800032..11801851-chr12:11845652..11848182,2	MCF-7	breast:
6	chr12:11800154..11802196-chr12:11905804..11907326,2	MCF-7	breast:
7	chr12:11799547..11802655-chr12:12030358..12032726,3	MCF-7	breast:
8	chr12:11800191..11804184-chr12:12034563..12039946,8	MCF-7	breast:

No data

Variant related genes	Relation type
ETV6	TF binding region
ENSG00000139083	Chromatin interaction

rSNPs within LD-proxies of this variant (count:3)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4763714	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11792600-11801000	Weak transcription	HMEC	breast
2	chr12:11797200-11801200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:11797400-11801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:11797400-11801400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:11798800-11801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:11799800-11801000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:11800200-11801000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:11800800-11801000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:11800800-11801000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:11800800-11801000	Enhancers	K562	blood
11	chr12:11800800-11801200	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:11800800-11801400	Enhancers	Fetal Brain Male	brain

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