Variant report

Variant	rs11609849
Chromosome Location	chr12:39258090-39258091
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39256596..39258957-chr12:39260248..39262001,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10506129	0.96[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10876086	0.84[AFR][1000 genomes]
rs10876149	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169301	0.84[AFR][1000 genomes]
rs11169508	0.84[AFR][1000 genomes]
rs11169511	0.84[AFR][1000 genomes]
rs11169547	0.84[AFR][1000 genomes]
rs11169666	0.84[AFR][1000 genomes]
rs11169769	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169908	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11612004	0.84[AFR][1000 genomes]
rs11613205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812262	0.80[CEU][hapmap]
rs12827647	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1554550	0.84[AFR][1000 genomes]
rs1601579	0.84[AFR][1000 genomes]
rs17464772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17465893	0.88[CEU][hapmap]
rs17523988	0.96[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1843639	0.84[AFR][1000 genomes]
rs2056159	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2388060	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34204495	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035670	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4332556	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580755	0.84[AFR][1000 genomes]
rs7301104	0.84[AFR][1000 genomes]
rs7960621	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967776	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973992	0.84[AFR][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39238800-39271600	Weak transcription	NHEK	skin
4	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
5	chr12:39250600-39273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:39251200-39265000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:39252200-39276000	Weak transcription	Left Ventricle	heart
8	chr12:39252600-39262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:39252600-39265000	Weak transcription	Liver	Liver
10	chr12:39252600-39272000	Weak transcription	A549	lung
11	chr12:39253000-39265000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:39253000-39279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:39253200-39272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:39254400-39265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:39255000-39265200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:39256800-39269400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:39257000-39271400	Weak transcription	HMEC	breast
18	chr12:39257200-39265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:39257200-39265000	Weak transcription	GM12878-XiMat	blood
20	chr12:39257200-39265000	Weak transcription	Monocytes-CD14+_RO01746	blood

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