Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220444386..220446640-chr1:220883296..220885894,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12030411	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1690716	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2960571	0.93[ASN][1000 genomes]
rs2994528	0.81[EUR][1000 genomes]
rs337180	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs364360	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.93[ASN][1000 genomes]
rs3820354	1.00[CEU][hapmap]
rs384264	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs405682	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs409286	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs416768	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.82[MKK][hapmap];0.92[ASN][1000 genomes]
rs6541158	0.81[AMR][1000 genomes]
rs6658059	0.81[AMR][1000 genomes]
rs700036	0.89[ASN][1000 genomes]
rs7544698	1.00[ASW][hapmap];0.82[MKK][hapmap]
rs774128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs774130	1.00[EUR][1000 genomes];0.95[ASN][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	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17008307	MOSC2	cis	lymphoblastoid	seeQTL
rs17008307	MOSC2	cis	multi-tissue	Pritchard
rs17008307	MOSC1	cis	multi-tissue	Pritchard
rs17008307	C1orf115	cis	multi-tissue	Pritchard
rs17008307	FLJ14146	cis	multi-tissue	Pritchard
rs17008307	C1orf115	cis	lymphoblastoid	seeQTL
rs17008307	MOSC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220878200-220883800	Enhancers	Fetal Intestine Small	intestine
2	chr1:220878400-220885200	Enhancers	Duodenum Mucosa	Duodenum
3	chr1:220878400-220886000	Enhancers	HepG2	liver
4	chr1:220878800-220885200	Enhancers	Pancreas	Pancrea
5	chr1:220879400-220884400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:220879600-220883400	Weak transcription	Adipose Nuclei	Adipose
7	chr1:220880400-220883600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:220880800-220883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:220881600-220883400	Enhancers	Fetal Intestine Large	intestine
10	chr1:220881600-220885200	Enhancers	Primary B cells from cord blood	blood
11	chr1:220881600-220885200	Enhancers	Liver	Liver
12	chr1:220881600-220885400	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:220882000-220883400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:220882000-220884400	Weak transcription	Small Intestine	intestine
15	chr1:220882400-220885000	Enhancers	Right Ventricle	heart
16	chr1:220882600-220884800	Enhancers	Right Atrium	heart
17	chr1:220882600-220884800	Enhancers	Spleen	Spleen
18	chr1:220882800-220884000	Enhancers	Lung	lung
19	chr1:220882800-220884600	Weak transcription	Fetal Lung	lung
20	chr1:220882800-220885200	Enhancers	Left Ventricle	heart
21	chr1:220883000-220883600	Enhancers	Gastric	stomach
22	chr1:220883000-220884800	Enhancers	Ovary	ovary

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