Variant report

Variant	rs16935288
Chromosome Location	chr12:30197212-30197213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11609988	0.81[ASN][1000 genomes]
rs11615813	0.81[ASN][1000 genomes]
rs12580161	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12809401	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12809421	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12809796	0.82[ASN][1000 genomes]
rs12811068	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12811504	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12815024	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12817452	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12818351	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12818606	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12819312	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12822379	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12822894	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12823054	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12828870	0.81[ASN][1000 genomes]
rs12829150	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12829697	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12830126	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12831115	0.81[AMR][1000 genomes]
rs12831163	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12833660	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16935260	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1909145	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1995149	0.81[ASN][1000 genomes]
rs1995150	0.81[ASN][1000 genomes]
rs34442210	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35805515	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4930871	0.81[ASN][1000 genomes]
rs4930872	0.81[ASN][1000 genomes]
rs7314898	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7315007	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv826295	chr12:30130336-30207775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30196200-30197400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr12:30196400-30200600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:30196600-30198600	Weak transcription	Osteobl	bone
4	chr12:30196600-30200400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:30196800-30197400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:30196800-30197800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:30196800-30198600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:30196800-30198600	Weak transcription	NH-A	brain
9	chr12:30196800-30200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:30196800-30200400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:30196800-30200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:30196800-30200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:30196800-30200600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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