Variant report

Variant	rs17110927
Chromosome Location	chr12:72602045-72602046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10879375	0.95[ASN][1000 genomes]
rs11179085	0.86[ASN][1000 genomes]
rs11179086	0.86[ASN][1000 genomes]
rs11179106	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11179107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11179108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12228091	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12300509	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35077498	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58100233	0.83[ASN][1000 genomes]
rs59610962	0.83[ASN][1000 genomes]
rs61553783	0.86[ASN][1000 genomes]
rs7315442	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8181754	0.86[ASN][1000 genomes]
rs8181774	0.86[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	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832452	chr12:72584971-72764495	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72600600-72602800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:72600800-72602200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:72600800-72602200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:72600800-72602200	Enhancers	Brain Angular Gyrus	brain
5	chr12:72600800-72602400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:72600800-72602400	Enhancers	Fetal Lung	lung
7	chr12:72601000-72602200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:72601000-72602200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:72601000-72602200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:72601000-72602200	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:72601000-72602200	Enhancers	Brain Substantia Nigra	brain
12	chr12:72601200-72602200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:72601200-72602200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:72601400-72602200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:72602000-72602200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:72602000-72602200	Enhancers	Brain Hippocampus Middle	brain
17	chr12:72602000-72604800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:72602000-72609200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links