Variant report

Variant	rs2232328
Chromosome Location	chr2:169764546-169764547
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169763531..169766205-chr2:169769452..169771867,3	K562	blood:
2	chr2:169757381..169760101-chr2:169762347..169764988,3	K562	blood:
3	chr2:169733481..169736243-chr2:169763377..169765605,2	K562	blood:
4	chr2:169757280..169761059-chr2:169762984..169765763,4	K562	blood:

Variant related genes	Relation type
ENSG00000152253	Chromatin interaction
ENSG00000152254	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10497346	0.92[EUR][1000 genomes]
rs16856159	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856161	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879696	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232316	0.92[EUR][1000 genomes]
rs3770568	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821117	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56135702	0.90[EUR][1000 genomes]
rs6730651	0.92[EUR][1000 genomes]
rs7606215	0.97[EUR][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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	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	chr2:169762200-169765800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:169762400-169764800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:169762800-169765200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:169763200-169765200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:169763200-169765400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:169763400-169764600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:169763400-169764600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:169763400-169764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:169763400-169765400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:169763600-169766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:169763800-169766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:169764000-169764600	Enhancers	Spleen	Spleen
13	chr2:169764000-169764800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:169764000-169765000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:169764200-169764600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:169764200-169765000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:169764400-169764800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:169764400-169765400	Enhancers	K562	blood
19	chr2:169764400-169768400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:169764400-169768400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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