Variant report

Variant	rs16853749
Chromosome Location	chr2:168411666-168411667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1113988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104575	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227136	0.82[EUR][1000 genomes]
rs1228656	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841779	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853635	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853707	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853738	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17564763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565731	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61010982	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61353392	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024082	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026021	1.00[EUR][1000 genomes]
rs7572056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1008206	chr2:168401249-168452887	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv528466	chr2:168402224-168447851	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv583593	chr2:168402224-168452630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1004326	chr2:168403386-168452887	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168393400-168412000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:168400200-168416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:168401400-168412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:168401400-168414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:168403600-168414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:168403800-168414200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:168407400-168413200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:168408200-168414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:168408400-168413000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:168408400-168414000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:168409800-168411800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:168411600-168412200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:168411600-168415800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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