Variant report

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10495157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1335915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1335916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1414508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1414517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1572384	0.80[EUR][1000 genomes]
rs2210837	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2484708	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2484709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2484710	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2784246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2784273	0.80[EUR][1000 genomes]
rs2784283	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2807866	0.80[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1335928	MOSC2	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221089000-221096200	Weak transcription	Spleen	Spleen
2	chr1:221093800-221097000	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:221094200-221097200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:221094400-221099200	Weak transcription	Psoas Muscle	Psoas
5	chr1:221094600-221096600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:221094800-221095800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:221094800-221095800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:221094800-221096800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:221095000-221095800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:221095000-221095800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:221095000-221096000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:221095000-221096000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:221095000-221096400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:221095000-221096600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:221095000-221096600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:221095200-221095600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:221095200-221096000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:221095400-221095600	Enhancers	NHDF-Ad	bronchial
19	chr1:221095400-221095800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:221095400-221096600	Enhancers	Fetal Muscle Leg	muscle

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