Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184162098..184163730-chr1:184168905..184171042,2	K562	blood:
2	chr1:184157500..184160984-chr1:184162695..184165772,3	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10752934	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078926	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10797943	0.82[ASN][1000 genomes]
rs10911525	0.81[ASN][1000 genomes]
rs12033327	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12046452	0.83[ASN][1000 genomes]
rs12123933	0.92[ASN][1000 genomes]
rs12128341	0.87[ASN][1000 genomes]
rs12136030	0.98[ASN][1000 genomes]
rs17574056	0.89[ASN][1000 genomes]
rs1887295	0.92[ASN][1000 genomes]
rs2025808	0.91[ASN][1000 genomes]
rs2042556	0.93[ASN][1000 genomes]
rs4651184	0.87[ASN][1000 genomes]
rs4651185	0.87[ASN][1000 genomes]
rs60072887	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6661497	0.83[ASN][1000 genomes]
rs66781583	0.87[ASN][1000 genomes]
rs6684045	0.90[ASN][1000 genomes]
rs6690187	0.92[ASN][1000 genomes]
rs6691210	0.87[ASN][1000 genomes]
rs6696916	0.83[ASN][1000 genomes]
rs67878484	0.88[ASN][1000 genomes]
rs72735619	0.87[ASN][1000 genomes]
rs7517993	0.80[ASN][1000 genomes]
rs7527771	0.92[ASN][1000 genomes]
rs997343	0.90[ASN][1000 genomes]
rs997568	0.87[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184158600-184163200	Enhancers	Fetal Stomach	stomach
2	chr1:184160600-184163200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:184160800-184169200	Weak transcription	Fetal Brain Female	brain
4	chr1:184161000-184163200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:184161000-184165400	Weak transcription	HSMMtube	muscle
6	chr1:184161000-184168200	Weak transcription	Fetal Kidney	kidney
7	chr1:184161400-184163600	Weak transcription	Fetal Lung	lung
8	chr1:184161400-184168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:184162200-184163200	Enhancers	Left Ventricle	heart
10	chr1:184162600-184163200	Enhancers	Pancreas	Pancrea
11	chr1:184162600-184163400	Enhancers	Fetal Brain Male	brain
12	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart
13	chr1:184163000-184164400	Enhancers	Fetal Heart	heart

Quick Search: