Variant report

Variant	rs10950521
Chromosome Location	chr7:14429350-14429351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10279461	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs17168132	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2357958	0.93[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap]
rs4721334	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv606281	chr7:14388381-14443963	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10950521	TMEM195	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14428400-14429400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:14428400-14429400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:14428400-14429400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:14428400-14429600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:14428400-14429800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:14428600-14429800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:14428600-14429800	Enhancers	Brain Germinal Matrix	brain
8	chr7:14429000-14429600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:14429200-14429800	Enhancers	Liver	Liver

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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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