Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184157500..184160343-chr1:184163761..184167011,3	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10911521	0.86[ASN][1000 genomes]
rs10911528	0.93[ASN][1000 genomes]
rs10911529	0.81[ASN][1000 genomes]
rs11802235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810038	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12119930	0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12119989	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12142293	0.86[JPT][hapmap]
rs12401732	0.90[ASN][1000 genomes]
rs12402004	0.95[ASN][1000 genomes]
rs12402028	0.90[ASN][1000 genomes]
rs12403264	0.90[ASN][1000 genomes]
rs1327142	0.86[JPT][hapmap]
rs2161989	0.81[ASN][1000 genomes]
rs2194700	0.95[ASN][1000 genomes]
rs2378818	0.90[ASN][1000 genomes]
rs2378820	0.90[ASN][1000 genomes]
rs34518379	0.90[ASN][1000 genomes]
rs36086128	0.90[ASN][1000 genomes]
rs4651179	0.86[JPT][hapmap]
rs58294748	0.95[ASN][1000 genomes]
rs6660720	0.86[ASN][1000 genomes]
rs6661144	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6670049	0.81[ASN][1000 genomes]
rs6678597	0.83[ASN][1000 genomes]
rs6694958	0.90[ASN][1000 genomes]
rs6696567	0.83[ASN][1000 genomes]
rs929942	0.90[ASN][1000 genomes]
rs9650990	0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs986595	0.90[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184160800-184169200	Weak transcription	Fetal Brain Female	brain
2	chr1:184161000-184168200	Weak transcription	Fetal Kidney	kidney
3	chr1:184161400-184168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart
5	chr1:184165800-184167000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:184166400-184167400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:184166400-184167800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:184166400-184170200	Weak transcription	Right Atrium	heart
9	chr1:184166600-184167200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:184166800-184167200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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