Variant report

Variant	rs631514
Chromosome Location	chr5:118126746-118126747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10055188	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2193964	0.83[AFR][1000 genomes]
rs371209	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs421322	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs443574	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs584789	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs602868	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs602878	0.90[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs603388	0.90[AFR][1000 genomes]
rs611043	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612296	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs614505	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs625911	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs635718	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs654497	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs657071	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs667101	1.00[ASW][hapmap];0.90[CEU][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs670035	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs682859	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs631514	TNFAIP8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118121800-118127000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:118122000-118127200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:118125200-118127000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:118125200-118127600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:118125400-118126800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118125400-118127200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:118125600-118127000	Weak transcription	Liver	Liver
8	chr5:118126000-118127600	Enhancers	Fetal Lung	lung
9	chr5:118126400-118127800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:118126600-118126800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:118126600-118126800	Enhancers	Psoas Muscle	Psoas
12	chr5:118126600-118127000	Enhancers	Stomach Smooth Muscle	stomach
13	chr5:118126600-118127400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:118126600-118127800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:118126600-118128200	Enhancers	Brain Substantia Nigra	brain
16	chr5:118126600-118128600	Enhancers	Ovary	ovary
17	chr5:118126600-118131200	Weak transcription	iPS-18 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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