Variant report

Variant	rs2919426
Chromosome Location	chr16:30660700-30660701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr16:30660682-30660885	GM12878	blood:	n/a	chr16:30660814-30660827

No.	Distal block	Cell Line	Cell type
1	chr16:30537916..30540494-chr16:30660265..30663617,4	K562	blood:
2	chr16:30660345..30663986-chr16:30707025..30711349,10	K562	blood:
3	chr16:30568081..30571222-chr16:30660229..30663794,5	K562	blood:
4	chr16:30655530..30657440-chr16:30659640..30661858,2	MCF-7	breast:
5	chr16:30453693..30458218-chr16:30659757..30664442,8	K562	blood:

Variant related genes	Relation type
PRR14	TF binding region
ENSG00000169951	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000261840	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6565196	0.84[EUR][1000 genomes]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2919426	KAT8	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30646800-30661000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:30647000-30661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:30655400-30661000	Weak transcription	Stomach Mucosa	stomach
4	chr16:30655800-30661400	Weak transcription	K562	blood
5	chr16:30657000-30661200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:30658000-30661000	Weak transcription	GM12878-XiMat	blood
7	chr16:30658600-30660800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:30658600-30661000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:30658600-30661200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr16:30658800-30660800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr16:30659600-30661400	Weak transcription	HepG2	liver
12	chr16:30660200-30661200	Enhancers	Primary hematopoietic stem cells	blood
13	chr16:30660200-30661200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:30660200-30661400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:30660400-30660800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr16:30660400-30661200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr16:30660400-30661200	Active TSS	Stomach Smooth Muscle	stomach
18	chr16:30660600-30661000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:30660600-30661000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:30660600-30661200	Enhancers	Primary B cells from peripheral blood	blood

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