Variant report

Variant	rs366316
Chromosome Location	chr1:158224282-158224283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10797006	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs10908644	0.85[EUR][1000 genomes]
rs11264949	0.85[EUR][1000 genomes]
rs12038925	0.80[CEU][hapmap]
rs12077077	0.87[EUR][1000 genomes]
rs12077284	0.86[EUR][1000 genomes]
rs12089293	0.87[EUR][1000 genomes]
rs12407446	0.88[EUR][1000 genomes]
rs12409817	0.87[EUR][1000 genomes]
rs12751238	0.84[EUR][1000 genomes]
rs1813777	0.85[EUR][1000 genomes]
rs378137	0.90[EUR][1000 genomes]
rs389293	0.92[EUR][1000 genomes]
rs440419	0.82[YRI][hapmap]
rs440710	0.90[EUR][1000 genomes]
rs6685958	0.88[EUR][1000 genomes]
rs6687405	0.86[EUR][1000 genomes]
rs716221	0.80[CEU][hapmap]

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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv508626	chr1:158161932-158242158	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1845799	chr1:158175976-158230829	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv831692	chr1:158223459-158392016	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs366316	S100A13	cis	parietal	SCAN
rs366316	AIM2	cis	cerebellum	SCAN
rs366316	GPATCH4	cis	parietal	SCAN
rs366316	RP11-404O13.4	cis	Thyroid	GTEx
rs366316	S100A16	cis	cerebellum	SCAN
rs366316	MRPL24	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158221600-158224800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:158221600-158227200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:158222800-158224800	Flanking Active TSS	Dnd41	blood
4	chr1:158223200-158224600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:158223200-158224800	Enhancers	Primary T cells from cord blood	blood
6	chr1:158223600-158226400	Flanking Active TSS	Thymus	Thymus
7	chr1:158223800-158226000	Flanking Active TSS	Fetal Thymus	thymus
8	chr1:158224200-158224600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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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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