Variant report

Variant	rs4767454
Chromosome Location	chr12:117235727-117235728
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10047539	0.93[ASN][1000 genomes]
rs10735097	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774889	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774890	0.81[EUR][1000 genomes]
rs10850722	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850723	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1495933	0.83[EUR][1000 genomes]
rs2393107	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238048	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4326894	0.83[EUR][1000 genomes]
rs4432105	0.84[ASN][1000 genomes]
rs4767458	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767460	0.93[ASN][1000 genomes]
rs4767462	0.84[ASN][1000 genomes]
rs4767463	0.81[ASN][1000 genomes]
rs4767466	0.84[ASN][1000 genomes]
rs6490093	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490095	0.84[ASN][1000 genomes]
rs7304747	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903773	0.84[ASN][1000 genomes]
rs924072	0.83[EUR][1000 genomes]
rs987560	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117198200-117236600	Weak transcription	A549	lung
3	chr12:117221200-117236800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:117222000-117248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:117222400-117236600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:117222400-117236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:117222600-117236600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:117222600-117236600	Weak transcription	Brain Anterior Caudate	brain
9	chr12:117222800-117236600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:117222800-117236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:117223600-117246200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:117225000-117236600	Weak transcription	Primary B cells from cord blood	blood
13	chr12:117225000-117237600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:117225200-117236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:117225200-117236800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:117227000-117249200	Weak transcription	Primary T cells from cord blood	blood
18	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:117232200-117236800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:117233000-117238000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:117234000-117237600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:117234600-117246800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:117234800-117236400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr12:117234800-117238000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:117235000-117235800	Weak transcription	Brain Germinal Matrix	brain
27	chr12:117235200-117238200	ZNF genes & repeats	Fetal Thymus	thymus
28	chr12:117235400-117236000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117235400-117237400	ZNF genes & repeats	Fetal Brain Female	brain
30	chr12:117235400-117238000	ZNF genes & repeats	Dnd41	blood
31	chr12:117235400-117238200	ZNF genes & repeats	Thymus	Thymus
32	chr12:117235600-117237800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:117235600-117238000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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