Variant report

Variant	rs1111088
Chromosome Location	chr1:184256457-184256458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184251590..184254407-chr1:184256062..184257847,2	K562	blood:
2	chr1:184255720..184257876-chr1:184261050..184263922,2	K562	blood:
3	chr1:184254533..184257153-chr1:184267473..184269337,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1006198	0.88[EUR][1000 genomes]
rs10442605	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797946	0.80[EUR][1000 genomes]
rs10911531	0.80[EUR][1000 genomes]
rs10911553	0.81[ASN][1000 genomes]
rs10911554	0.81[ASN][1000 genomes]
rs10911555	0.91[CHB][hapmap]
rs11576933	0.81[ASN][1000 genomes]
rs11585071	0.82[CHB][hapmap]
rs11806061	0.89[EUR][1000 genomes]
rs12120085	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12136077	0.80[EUR][1000 genomes]
rs12139516	0.80[EUR][1000 genomes]
rs12139721	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1571972	0.93[EUR][1000 genomes]
rs1930290	0.81[ASN][1000 genomes]
rs2216932	0.93[EUR][1000 genomes]
rs2378841	0.93[EUR][1000 genomes]
rs2840274	0.81[EUR][1000 genomes]
rs4306092	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4428848	0.92[CHB][hapmap]
rs4650664	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4651193	0.80[EUR][1000 genomes]
rs4651195	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4651197	0.93[EUR][1000 genomes]
rs4651199	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651200	0.92[CHB][hapmap]
rs6424940	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6424944	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6666447	0.81[ASN][1000 genomes]
rs6678460	0.80[EUR][1000 genomes]
rs6684740	0.81[ASN][1000 genomes]
rs6695243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6697326	0.97[ASN][1000 genomes]
rs7522326	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7522468	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7530243	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7554776	0.85[ASN][1000 genomes]
rs932993	0.87[CHB][hapmap]
rs963234	0.92[CHB][hapmap]
rs9787399	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184253600-184258400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:184253800-184258800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:184254000-184259200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:184255200-184258800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:184255200-184258800	Weak transcription	NHEK	skin
6	chr1:184255200-184259000	Weak transcription	HMEC	breast
7	chr1:184255600-184266400	Weak transcription	Spleen	Spleen
8	chr1:184256000-184266000	Weak transcription	Right Atrium	heart
9	chr1:184256200-184257000	Enhancers	Placenta	Placenta
10	chr1:184256200-184257200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:184256400-184256800	ZNF genes & repeats	Esophagus	oesophagus
12	chr1:184256400-184256800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr1:184256400-184258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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