Variant report

Variant	rs17350383
Chromosome Location	chr7:18930213-18930214
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:16)

rs_ID	r²[population]
rs10261390	0.82[CEU][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10261942	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10276724	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10277631	0.83[ASN][1000 genomes]
rs11768780	0.88[CEU][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12700010	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13239610	0.83[ASN][1000 genomes]
rs17350236	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17350341	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17350397	1.00[JPT][hapmap]
rs17350431	1.00[ASW][hapmap];0.81[CEU][hapmap];0.90[JPT][hapmap]
rs2024022	0.82[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2190278	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs34205559	0.83[ASN][1000 genomes]
rs71524255	0.86[ASN][1000 genomes]
rs71524256	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv523497	chr7:18896011-18959381	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2756248	chr7:18911960-18977760	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1030062	chr7:18915874-18943409	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17350383	TMEM195	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18903000-18940000	Weak transcription	Aorta	Aorta
2	chr7:18928800-18931200	Enhancers	Fetal Heart	heart
3	chr7:18929200-18931400	Enhancers	NHDF-Ad	bronchial
4	chr7:18929200-18931600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:18929400-18930800	Weak transcription	Adipose Nuclei	Adipose
6	chr7:18929400-18931000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:18929400-18931200	Enhancers	NHLF	lung
8	chr7:18929800-18930800	Weak transcription	Fetal Stomach	stomach
9	chr7:18929800-18931000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:18929800-18931000	Enhancers	Stomach Smooth Muscle	stomach
11	chr7:18930000-18931200	Enhancers	Colon Smooth Muscle	Colon
12	chr7:18930000-18932800	Weak transcription	HMEC	breast
13	chr7:18930000-18934400	Weak transcription	Osteobl	bone
14	chr7:18930000-18934800	Weak transcription	HUVEC	blood vessel
15	chr7:18930200-18930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:18930200-18934800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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