Variant report

Variant	rs2919428
Chromosome Location	chr16:30655428-30655429
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30654349..30656646-chr16:30669409..30671874,2	MCF-7	breast:
2	chr16:30654526..30657000-chr16:30661179..30663690,2	K562	blood:
3	chr16:30653973..30656700-chr16:30709787..30711680,2	MCF-7	breast:
4	chr16:30439862..30442590-chr16:30655226..30656764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000156858	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1348039	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1470129	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1530201	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2972805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34838942	1.00[AMR][1000 genomes]
rs35590751	1.00[AMR][1000 genomes]
rs35752464	1.00[AMR][1000 genomes]
rs4889492	1.00[AMR][1000 genomes]
rs4889502	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889506	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs55821738	1.00[AMR][1000 genomes]
rs58723456	1.00[AMR][1000 genomes]
rs59474645	1.00[AMR][1000 genomes]
rs61678005	1.00[AMR][1000 genomes]
rs62057229	1.00[AMR][1000 genomes]
rs6420450	1.00[AMR][1000 genomes]
rs7188789	0.91[YRI][hapmap]
rs7188927	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs7194347	0.91[YRI][hapmap]
rs74015010	1.00[AMR][1000 genomes]
rs74015011	1.00[AMR][1000 genomes]
rs74015012	1.00[AMR][1000 genomes]
rs893924	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs893925	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs9925025	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
9	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30646800-30660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:30646800-30661000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:30647000-30661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:30655200-30655800	Enhancers	K562	blood
5	chr16:30655200-30656200	Flanking Active TSS	HepG2	liver
6	chr16:30655400-30661000	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links