Variant report

Variant	rs889400
Chromosome Location	chr16:69555876-69555877
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69555230..69558734-chr16:69596877..69599308,3	K562	blood:
2	chr16:69546010..69548545-chr16:69554522..69557315,2	K562	blood:
3	chr16:69555075..69556617-chr16:69599347..69601386,2	K562	blood:
4	chr16:69554984..69557570-chr16:69599463..69601057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2311380	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2311381	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4783719	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9938717	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs889400	CLEC18A	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69548200-69563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:69548600-69556600	Weak transcription	K562	blood
3	chr16:69549200-69560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:69549600-69563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:69550000-69557000	Weak transcription	Placenta	Placenta
6	chr16:69552400-69563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:69554200-69556800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:69554600-69556200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:69554600-69556200	Enhancers	HSMMtube	muscle
10	chr16:69554600-69557000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr16:69554800-69556200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:69554800-69556200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr16:69555200-69556000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:69555400-69556000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:69555400-69556400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:69555400-69561000	Weak transcription	A549	lung
17	chr16:69555600-69556000	Weak transcription	NHEK	skin
18	chr16:69555600-69562600	Weak transcription	Hela-S3	cervix
19	chr16:69555800-69556400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:69555800-69556400	Enhancers	GM12878-XiMat	blood
21	chr16:69555800-69557200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr16:69555800-69558400	Enhancers	HepG2	liver
23	chr16:69555800-69560800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:69555800-69561200	Weak transcription	HSMM	muscle
25	chr16:69555800-69563200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:69555800-69563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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