Variant report

Variant	rs11955350
Chromosome Location	chr5:89431488-89431489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11951826	1.00[AFR][1000 genomes]
rs11955480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11955519	1.00[AFR][1000 genomes]
rs11956545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16868217	1.00[ASN][1000 genomes]
rs16868224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6883631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73772608	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11955350	ZNF229	trans	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89429400-89431600	Enhancers	Rectal Smooth Muscle	rectum
2	chr5:89429600-89432600	Enhancers	Colon Smooth Muscle	Colon
3	chr5:89429800-89432000	Enhancers	Aorta	Aorta
4	chr5:89429800-89432200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:89430000-89431600	Enhancers	NH-A	brain
6	chr5:89430000-89435800	Weak transcription	Psoas Muscle	Psoas
7	chr5:89430200-89431800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:89430400-89431600	Enhancers	HUVEC	blood vessel
9	chr5:89430400-89431800	Enhancers	Stomach Mucosa	stomach
10	chr5:89430600-89431600	Enhancers	Brain Hippocampus Middle	brain
11	chr5:89430600-89431800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:89430600-89432200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:89430600-89432400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:89430800-89432000	Enhancers	Fetal Muscle Leg	muscle
15	chr5:89431000-89432000	Weak transcription	Spleen	Spleen
16	chr5:89431200-89431600	Weak transcription	Right Atrium	heart
17	chr5:89431200-89433000	Enhancers	Stomach Smooth Muscle	stomach

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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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