Variant report

Variant	rs17151637
Chromosome Location	chr8:10153082-10153083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11774474	1.00[ASN][1000 genomes]
rs11779480	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2952172	0.82[GIH][hapmap]
rs2952176	0.81[EUR][1000 genomes]
rs2975635	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2975647	0.92[GIH][hapmap]
rs2975649	0.88[GIH][hapmap]
rs2975654	0.90[GIH][hapmap]
rs4841317	1.00[CHB][hapmap]
rs55743011	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56262913	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57737477	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601427	1.00[CHB][hapmap]
rs73536222	1.00[ASN][1000 genomes]
rs7832708	1.00[CHB][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	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17151637	CTSB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10144400-10167000	Weak transcription	Right Ventricle	heart
2	chr8:10148200-10159800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:10149400-10163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:10151000-10153200	Enhancers	Brain Germinal Matrix	brain
5	chr8:10151000-10160000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:10151400-10177000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:10151400-10178800	Weak transcription	Spleen	Spleen
8	chr8:10152400-10154200	Weak transcription	Psoas Muscle	Psoas
9	chr8:10152400-10154200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:10152400-10158200	Weak transcription	Fetal Brain Female	brain
11	chr8:10152600-10153200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr8:10152800-10153400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10152800-10154200	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:10152800-10157400	Weak transcription	Fetal Brain Male	brain
15	chr8:10153000-10153200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:10153000-10153400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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