Variant report

Variant	rs4265646
Chromosome Location	chr12:41969879-41969880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10506198	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495778	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17121156	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17129486	0.94[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs17129547	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007974	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3747556	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55724233	0.85[ASN][1000 genomes]
rs7133757	0.94[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs73115867	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73115875	0.95[EUR][1000 genomes]
rs73115879	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73115897	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73282231	0.85[ASN][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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41959400-41970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:41966200-41973000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:41966600-41973000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:41967000-41975600	Weak transcription	Aorta	Aorta
5	chr12:41967200-41972800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:41967400-41976600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:41967600-41972400	Weak transcription	Fetal Stomach	stomach
8	chr12:41967600-41973200	Weak transcription	Brain Germinal Matrix	brain
9	chr12:41968400-41971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:41968400-41975400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:41968600-41971000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:41968600-41971600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:41968600-41972000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:41968800-41970200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:41969200-41971600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:41969400-41971000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:41969400-41971600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:41969400-41971600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:41969400-41971800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:41969400-41972000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:41969400-41973000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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