Variant report

Variant	rs35942647
Chromosome Location	chr12:33142052-33142053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11052283	1.00[AFR][1000 genomes]
rs12811328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12815360	0.83[AMR][1000 genomes]
rs12816683	1.00[AMR][1000 genomes]
rs12827254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12827744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12827864	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12830581	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17553487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17623138	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34018607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34113579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34202049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34234620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34398102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34506464	1.00[AMR][1000 genomes]
rs34777911	0.83[AMR][1000 genomes]
rs34942504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35118163	0.83[AMR][1000 genomes]
rs35151039	0.83[AMR][1000 genomes]
rs35285975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35398283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35399277	0.83[AMR][1000 genomes]
rs35522863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35607659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35681913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35687751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35760728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35848741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35895521	0.83[AMR][1000 genomes]
rs36042953	1.00[AMR][1000 genomes]
rs4076733	1.00[AMR][1000 genomes]
rs71457664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71457666	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71457669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71457671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71457675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71457678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71457681	0.87[EUR][1000 genomes]
rs71457684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71457691	0.83[AMR][1000 genomes]
rs71457692	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:33137000-33142200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33140400-33144400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:33140600-33164800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:33140800-33142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:33141400-33142200	Enhancers	Placenta	Placenta
6	chr12:33141600-33142400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:33141600-33142800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:33141600-33142800	Enhancers	Hela-S3	cervix
9	chr12:33141600-33143000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:33141600-33143200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:33141600-33143800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:33141600-33147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:33141800-33142200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:33141800-33143600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:33142000-33143000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:33142000-33143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:33142000-33143200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:33142000-33143200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:33142000-33143600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:33142000-33144400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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