Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:92793900..92797470-chr9:92799837..92802623,4	MCF-7	breast:
2	chr9:92794140..92796273-chr9:92804304..92805931,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10733741	1.00[MKK][hapmap]
rs1074176	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.93[MEX][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10820827	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10991759	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10993747	1.00[ASW][hapmap];0.93[MEX][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12339520	0.82[AMR][1000 genomes]
rs17540648	1.00[LWK][hapmap]
rs1992545	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28534712	1.00[AFR][1000 genomes]
rs41274971	1.00[AFR][1000 genomes]
rs4744096	1.00[MKK][hapmap]
rs497115	0.84[AMR][1000 genomes]
rs548196	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55855831	1.00[AFR][1000 genomes]
rs56373906	1.00[AFR][1000 genomes]
rs602063	0.84[AMR][1000 genomes]
rs603801	0.84[AMR][1000 genomes]
rs64161	0.84[AMR][1000 genomes]
rs648329	0.84[AMR][1000 genomes]
rs652913	0.86[MEX][hapmap];0.84[AMR][1000 genomes]
rs72752995	1.00[AFR][1000 genomes]
rs72755016	1.00[AFR][1000 genomes]
rs72755051	1.00[AFR][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	nsv893561	chr9:92732368-92802101	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv482303	chr9:92752928-92890226	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv614852	chr9:92786722-93100550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv893562	chr9:92794721-92850878	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs547974	MAL	trans	cerebellum	SCAN
rs547974	ZNF484	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92789600-92806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:92789800-92796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:92789800-92796400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:92789800-92799600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:92790000-92796400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:92792600-92795600	Enhancers	Brain Germinal Matrix	brain
7	chr9:92793000-92796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:92793200-92795600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:92793200-92796400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:92793200-92796400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:92793200-92796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:92793600-92796600	Enhancers	Liver	Liver
13	chr9:92793800-92796800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:92795000-92796400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:92795000-92799400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:92795200-92795600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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