Variant report

Variant	rs55667375
Chromosome Location	chr16:31155458-31155459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31152927..31156733-chr16:31157447..31161176,6	MCF-7	breast:
2	chr16:31154879..31157873-chr16:31200398..31203154,2	K562	blood:
3	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
4	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
5	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
6	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
7	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
8	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
9	chr16:31155383..31157939-chr16:31165219..31167593,2	K562	blood:
10	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089280	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000167395	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1060506	0.83[EUR][1000 genomes]
rs11865499	0.83[EUR][1000 genomes]
rs1549299	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28725459	0.83[EUR][1000 genomes]
rs2884738	0.88[EUR][1000 genomes]
rs59735493	0.83[EUR][1000 genomes]
rs61320757	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs889555	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55667375	MYST1	Cis_1M	lymphoblastoid	RTeQTL
rs55667375	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs55667375	KAT8	cis	Artery Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31154400-31159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:31154400-31159400	Weak transcription	Pancreas	Pancrea
3	chr16:31154400-31160600	Weak transcription	Hela-S3	cervix
4	chr16:31154400-31190400	Weak transcription	Right Atrium	heart
5	chr16:31154600-31157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:31154600-31159400	Weak transcription	Liver	Liver
7	chr16:31154600-31159400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:31154600-31161800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:31154800-31156800	Weak transcription	Placenta	Placenta
10	chr16:31154800-31157000	Weak transcription	Fetal Thymus	thymus
11	chr16:31154800-31159200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:31155000-31156800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr16:31155000-31156800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:31155000-31156800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:31155000-31157000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:31155000-31159000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:31155000-31159400	Weak transcription	Gastric	stomach
18	chr16:31155000-31159400	Weak transcription	Spleen	Spleen
19	chr16:31155200-31159000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:31155400-31159800	Weak transcription	Esophagus	oesophagus
21	chr16:31155400-31160400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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