Variant report

Variant	rs16895916
Chromosome Location	chr8:90428107-90428108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1383033	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1479904	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16894918	0.80[EUR][1000 genomes]
rs1904519	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1993967	0.82[EUR][1000 genomes]
rs1993968	0.82[EUR][1000 genomes]
rs2029276	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2029277	0.91[GIH][hapmap]
rs34011839	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4265228	0.80[EUR][1000 genomes]
rs4265229	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4458917	0.93[EUR][1000 genomes]
rs55978831	0.91[EUR][1000 genomes]
rs610880	1.00[JPT][hapmap]
rs62532771	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62532774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62532801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67779407	0.80[EUR][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	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1024956	chr8:90104423-90459539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv539671	chr8:90104423-90459539	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv2761173	chr8:90404592-90592009	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv984554	chr8:90410700-90501154	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv967615	chr8:90424836-90429374	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1027327	chr8:90426338-90585108	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16895916	MFF	trans	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90421600-90430600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:90424400-90435200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:90427000-90428200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:90427200-90428200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:90427200-90428400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:90427200-90428400	Enhancers	HMEC	breast
7	chr8:90427200-90428800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:90427200-90429000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:90427400-90428200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:90427400-90428200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:90427600-90428200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:90427600-90428200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:90427600-90428200	Enhancers	NHEK	skin
14	chr8:90427600-90428400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:90427800-90428400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:90428000-90428400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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