Variant report

Variant	rs11817954
Chromosome Location	chr10:50490129-50490130
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	chr10:50489012..50491295-chr10:50497060..50500818,3	MCF-7	breast:
2	chr10:50486341..50490771-chr10:50506621..50509416,6	K562	blood:

Variant related genes	Relation type
ENSG00000177354	Chromatin interaction
ENSG00000236208	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1001338	1.00[ASN][1000 genomes]
rs1004871	0.92[ASN][1000 genomes]
rs10745254	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10776548	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11101077	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812365	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11814573	0.84[ASN][1000 genomes]
rs11816487	1.00[ASN][1000 genomes]
rs12764079	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17009639	0.84[ASN][1000 genomes]
rs17176642	1.00[ASN][1000 genomes]
rs17176649	1.00[ASN][1000 genomes]
rs17176677	1.00[ASN][1000 genomes]
rs17774672	0.87[ASN][1000 genomes]
rs17783271	1.00[ASN][1000 genomes]
rs2377968	1.00[ASN][1000 genomes]
rs2377970	1.00[ASN][1000 genomes]
rs2377971	1.00[ASN][1000 genomes]
rs2377972	1.00[ASN][1000 genomes]
rs28728361	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2889804	1.00[ASN][1000 genomes]
rs35852229	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4409751	1.00[ASN][1000 genomes]
rs4440951	1.00[ASN][1000 genomes]
rs4838379	1.00[ASN][1000 genomes]
rs4838484	0.92[ASN][1000 genomes]
rs4838490	1.00[ASN][1000 genomes]
rs4838491	1.00[ASN][1000 genomes]
rs4838495	0.82[ASN][1000 genomes]
rs6537521	1.00[ASN][1000 genomes]
rs6537522	1.00[ASN][1000 genomes]
rs7898878	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7900404	0.83[ASN][1000 genomes]
rs7900538	0.87[ASN][1000 genomes]
rs7904928	0.87[ASN][1000 genomes]
rs7906537	1.00[ASN][1000 genomes]
rs7914160	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7919151	0.98[ASN][1000 genomes]
rs9888050	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50485800-50495000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:50486000-50490400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr10:50487200-50490800	Enhancers	Fetal Heart	heart
4	chr10:50487400-50490400	Weak transcription	K562	blood
5	chr10:50488200-50490400	Weak transcription	HSMMtube	muscle
6	chr10:50488200-50490600	Weak transcription	HSMM	muscle
7	chr10:50488200-50490800	Weak transcription	Right Atrium	heart
8	chr10:50488200-50492400	Weak transcription	Lung	lung
9	chr10:50488400-50490600	Weak transcription	Right Ventricle	heart
10	chr10:50488600-50491200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr10:50488600-50494600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:50488800-50490600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:50489000-50492800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr10:50489200-50490600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr10:50489400-50492000	Enhancers	Fetal Muscle Trunk	muscle
16	chr10:50489600-50491800	Enhancers	Left Ventricle	heart
17	chr10:50489600-50491800	Enhancers	Psoas Muscle	Psoas
18	chr10:50489600-50492800	Enhancers	Fetal Muscle Leg	muscle
19	chr10:50490000-50490800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:50490000-50491000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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