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	GATA3	chr5:95036774-95037063	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr5:95036736-95037066	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr5:95036564-95037373	SK-N-SH	brain:	n/a	n/a
4	GATA2	chr5:95036816-95037117	SH-SY5Y	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95031841..95037563-chr5:95043452..95050597,14	MCF-7	breast:
2	chr5:95032514..95039868-chr5:95065272..95071370,13	MCF-7	breast:
3	chr5:95032327..95035788-chr5:95035913..95039384,6	MCF-7	breast:
4	chr5:95030766..95038024-chr5:95063760..95069646,19	MCF-7	breast:
5	chr5:95021448..95024081-chr5:95035363..95040097,4	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10705	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17211585	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs150543	RHOBTB3	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95015000-95040400	Weak transcription	HSMMtube	muscle
2	chr5:95017600-95039800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:95031400-95046000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:95033200-95047000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:95033400-95044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:95034000-95045800	Weak transcription	Ovary	ovary
7	chr5:95034200-95045800	Weak transcription	Fetal Kidney	kidney
8	chr5:95034400-95038200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:95034400-95043000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:95035000-95039600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:95035200-95041800	Weak transcription	K562	blood
12	chr5:95036400-95040400	Weak transcription	Placenta	Placenta
13	chr5:95036800-95037800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:95037000-95037800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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