Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57145102..57148601-chr11:57153468..57156551,3	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10400305	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10792094	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10896612	0.87[ASN][1000 genomes]
rs10896613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896614	0.82[EUR][1000 genomes]
rs10896615	0.82[EUR][1000 genomes]
rs11228973	0.86[ASN][1000 genomes]
rs11229017	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606592	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12272063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575356	0.92[EUR][1000 genomes]
rs1867128	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155232	0.86[ASN][1000 genomes]
rs2155233	0.86[ASN][1000 genomes]
rs2846396	0.97[EUR][1000 genomes]
rs3741085	0.82[EUR][1000 genomes]
rs4411290	0.87[ASN][1000 genomes]
rs4938863	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs518272	0.86[ASN][1000 genomes]
rs668408	0.86[ASN][1000 genomes]
rs7102952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106575	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7107352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121288	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10792093	MS4A7	cis	parietal	SCAN
rs10792093	CD5	cis	parietal	SCAN
rs10792093	MS4A7	cis	cerebellum	SCAN
rs10792093	GAD1	trans	lymphoblastoid	seeQTL
rs10792093	TIMM10	cis	parietal	SCAN
rs10792093	OR4A15	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57144800-57154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57149200-57171000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:57151000-57170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:57151200-57154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:57151200-57154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:57151200-57155600	Enhancers	K562	blood
7	chr11:57151200-57157400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:57153000-57155400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:57153400-57154400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:57153600-57154000	Enhancers	Pancreas	Pancrea
11	chr11:57153600-57154400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:57153600-57154400	Enhancers	Psoas Muscle	Psoas
13	chr11:57153600-57155600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:57153800-57154000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:57153800-57154800	Enhancers	Fetal Muscle Leg	muscle
16	chr11:57153800-57155600	Enhancers	Cortex derived primary cultured neurospheres	brain

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