Variant report

Variant	rs10992388
Chromosome Location	chr9:92951303-92951304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1539519	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62554823	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614852	chr9:92786722-93100550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv893563	chr9:92816727-92967125	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1051180	chr9:92869383-93141038	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv540169	chr9:92869383-93141038	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv482531	chr9:92907692-93096360	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2761542	chr9:92945565-92966675	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv969776	chr9:92946057-92998706	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10992388	NT5E	trans	cerebellum	SCAN
rs10992388	TMEM100	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92950200-92951800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr9:92950200-92952000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:92950600-92952000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr9:92950800-92951400	Enhancers	Primary T cells from cord blood	blood
5	chr9:92951000-92951400	Enhancers	Dnd41	blood
6	chr9:92951000-92951600	Flanking Active TSS	GM12878-XiMat	blood
7	chr9:92951000-92951800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr9:92951000-92951800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr9:92951000-92951800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:92951000-92951800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr9:92951000-92951800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:92951000-92951800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:92951000-92951800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr9:92951000-92952200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:92951200-92951600	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr9:92951200-92951600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr9:92951200-92951600	Enhancers	Adipose Nuclei	Adipose

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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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