Variant report

Variant	rs3954285
Chromosome Location	chr1:184164647-184164648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184157500..184160984-chr1:184162695..184165772,3	K562	blood:
2	chr1:184157500..184160343-chr1:184163761..184167011,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1006198	0.82[ASN][1000 genomes]
rs10797942	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10797946	0.84[ASN][1000 genomes]
rs10911524	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911525	0.89[ASN][1000 genomes]
rs10911526	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911527	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911530	0.84[ASN][1000 genomes]
rs10911531	0.84[ASN][1000 genomes]
rs12033327	0.87[ASN][1000 genomes]
rs12128572	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136077	0.86[ASN][1000 genomes]
rs12139463	0.84[ASN][1000 genomes]
rs12139516	0.86[ASN][1000 genomes]
rs1327139	0.87[ASN][1000 genomes]
rs1327147	0.84[ASN][1000 genomes]
rs1359760	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409809	0.87[ASN][1000 genomes]
rs1831055	0.87[ASN][1000 genomes]
rs1831056	0.87[ASN][1000 genomes]
rs1854086	0.86[ASN][1000 genomes]
rs1863155	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863156	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863157	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019376	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2081401	0.82[ASN][1000 genomes]
rs2081402	0.82[ASN][1000 genomes]
rs2081403	0.82[ASN][1000 genomes]
rs2151172	0.85[ASN][1000 genomes]
rs2161988	0.85[ASN][1000 genomes]
rs2194698	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194699	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2378819	0.92[ASN][1000 genomes]
rs2378824	0.86[ASN][1000 genomes]
rs2378825	0.87[ASN][1000 genomes]
rs2840274	0.83[ASN][1000 genomes]
rs4650656	0.92[ASN][1000 genomes]
rs4650663	0.86[ASN][1000 genomes]
rs4651182	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651186	0.84[ASN][1000 genomes]
rs4651189	0.84[ASN][1000 genomes]
rs4651190	0.84[ASN][1000 genomes]
rs4651191	0.81[ASN][1000 genomes]
rs4651193	0.83[ASN][1000 genomes]
rs56308906	0.82[ASN][1000 genomes]
rs6424931	0.92[ASN][1000 genomes]
rs6424933	0.91[ASN][1000 genomes]
rs6424934	0.91[ASN][1000 genomes]
rs6676366	0.82[ASN][1000 genomes]
rs6678460	0.83[ASN][1000 genomes]
rs6689088	0.82[ASN][1000 genomes]
rs714625	0.82[ASN][1000 genomes]
rs7349135	0.92[ASN][1000 genomes]
rs7540770	0.91[ASN][1000 genomes]
rs7549600	0.82[ASN][1000 genomes]
rs929941	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9803635	0.82[ASN][1000 genomes]
rs9803849	0.82[ASN][1000 genomes]
rs9803931	0.82[ASN][1000 genomes]
rs9804048	0.82[ASN][1000 genomes]
rs993065	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184160800-184169200	Weak transcription	Fetal Brain Female	brain
2	chr1:184161000-184165400	Weak transcription	HSMMtube	muscle
3	chr1:184161000-184168200	Weak transcription	Fetal Kidney	kidney
4	chr1:184161400-184168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart

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