Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184157500..184160343-chr1:184163761..184167011,3	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]
rs10911524	0.92[ASN][1000 genomes]
rs10911525	0.81[ASN][1000 genomes]
rs10911526	0.92[ASN][1000 genomes]
rs10911527	0.92[ASN][1000 genomes]
rs12128572	0.92[ASN][1000 genomes]
rs1327139	0.81[ASN][1000 genomes]
rs1327143	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1359760	0.92[ASN][1000 genomes]
rs1409809	0.81[ASN][1000 genomes]
rs1831055	0.81[ASN][1000 genomes]
rs1831056	0.81[ASN][1000 genomes]
rs1854086	0.80[ASN][1000 genomes]
rs1863155	0.92[ASN][1000 genomes]
rs1863156	0.92[ASN][1000 genomes]
rs1863157	0.92[ASN][1000 genomes]
rs2019376	0.89[ASN][1000 genomes]
rs2194698	0.92[ASN][1000 genomes]
rs2378819	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378825	0.81[ASN][1000 genomes]
rs3954285	0.92[ASN][1000 genomes]
rs4650656	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651182	0.92[ASN][1000 genomes]
rs6424933	0.84[ASN][1000 genomes]
rs6424934	0.84[ASN][1000 genomes]
rs7349135	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540770	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929941	0.92[ASN][1000 genomes]
rs993065	0.92[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	chr1:184157000-184162000	Weak transcription	Right Ventricle	heart
2	chr1:184157000-184162200	Weak transcription	Left Ventricle	heart
3	chr1:184157800-184160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:184157800-184160000	Weak transcription	NHLF	lung
5	chr1:184157800-184162400	Enhancers	Fetal Heart	heart
6	chr1:184158200-184159400	Enhancers	Fetal Brain Male	brain
7	chr1:184158600-184159600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:184158600-184160800	Enhancers	Fetal Brain Female	brain
9	chr1:184158600-184163200	Enhancers	Fetal Stomach	stomach
10	chr1:184158800-184160000	Enhancers	Brain Hippocampus Middle	brain
11	chr1:184159000-184159400	Weak transcription	Fetal Lung	lung
12	chr1:184159000-184160000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:184159200-184159600	Weak transcription	Brain Cingulate Gyrus	brain

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