Variant report

Variant	rs929941
Chromosome Location	chr1:184163402-184163403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Extended variants
information (count: 70 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1006198	0.82[ASN][1000 genomes]
rs10797942	0.92[AMR][1000 genomes];0.86[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	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911527	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911530	0.84[ASN][1000 genomes]
rs10911531	0.84[ASN][1000 genomes]
rs10911555	0.87[CHB][hapmap]
rs12033327	0.87[ASN][1000 genomes]
rs12128572	0.89[AMR][1000 genomes];0.94[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]
rs1327143	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs1327147	0.84[ASN][1000 genomes]
rs1359760	0.89[AMR][1000 genomes];0.94[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	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863156	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863157	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[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	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194699	0.91[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]
rs3954285	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428848	0.87[CHB][hapmap]
rs4650656	0.92[ASN][1000 genomes]
rs4650663	0.86[ASN][1000 genomes]
rs4651182	0.90[AMR][1000 genomes];0.95[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]
rs4651200	0.87[CHB][hapmap]
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	0.87[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs7549600	0.82[ASN][1000 genomes]
rs932993	0.82[CHB][hapmap]
rs963234	0.87[CHB][hapmap]
rs9787399	0.87[CHB][hapmap]
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	0.94[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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs929941	CHST12	trans	parietal	SCAN
rs929941	RALGPS2	cis	parietal	SCAN
rs929941	TEDDM1	cis	parietal	SCAN
rs929941	RGS16	cis	parietal	SCAN
rs929941	TOR1AIP2	cis	parietal	SCAN

Chromatin state (count:9 , 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	chr1:184161400-184163600	Weak transcription	Fetal Lung	lung
5	chr1:184161400-184168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart
7	chr1:184163000-184164400	Enhancers	Fetal Heart	heart
8	chr1:184163200-184163600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:184163400-184163600	Enhancers	Rectal Smooth Muscle	rectum

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