Variant report

Variant	rs11172366
Chromosome Location	chr12:39897035-39897036
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	chr12:39891710..39895050-chr12:39895877..39898894,4	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11172144	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172162	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172480	0.83[ASN][1000 genomes]
rs11172616	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172645	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172646	0.81[ASN][1000 genomes]
rs11172647	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172687	0.88[ASN][1000 genomes]
rs11172692	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172697	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172794	0.81[ASN][1000 genomes]
rs11172896	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172897	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12227286	0.81[ASN][1000 genomes]
rs12227668	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12228013	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12229160	0.97[EUR][1000 genomes]
rs12229370	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12230055	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17127129	0.95[EUR][1000 genomes]
rs17127138	0.93[EUR][1000 genomes]
rs35790935	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35858791	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4072006	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4285917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294600	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4298947	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4378431	0.92[AFR][1000 genomes]
rs4639970	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57847223	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58036566	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59518553	0.81[ASN][1000 genomes]
rs59528535	0.81[ASN][1000 genomes]
rs60263267	0.89[AFR][1000 genomes]
rs61258856	0.95[EUR][1000 genomes]
rs6581188	0.85[AFR][1000 genomes]
rs7133599	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7294474	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7302302	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73088816	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7309234	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73094447	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73094449	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73094488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310178	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310871	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73268358	0.81[ASN][1000 genomes]
rs73268359	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74086536	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7970944	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1044049	chr12:39845078-39922808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1051709	chr12:39846990-39899051	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1048933	chr12:39886665-39946270	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39895200-39897600	Weak transcription	Adipose Nuclei	Adipose
2	chr12:39895800-39897200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:39895800-39897200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:39895800-39897200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:39895800-39897800	Enhancers	NHEK	skin
6	chr12:39895800-39898200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:39895800-39899400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:39896000-39897200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:39896000-39897200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:39896000-39897200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:39896000-39897400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:39896000-39897400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:39896000-39897600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:39896000-39897600	Enhancers	HMEC	breast
15	chr12:39896000-39897800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:39896400-39898000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:39896600-39897400	Enhancers	Hela-S3	cervix
18	chr12:39896600-39897600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:39896800-39897200	Enhancers	Osteobl	bone
20	chr12:39896800-39897800	Enhancers	HUVEC	blood vessel
21	chr12:39897000-39897600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:39897000-39898800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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